AQP11

AQP11 aquaporin 11

Annotation transcript: NM_173039.3

191 unique variant annotations were identified in 157 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
11-77301050-C-T c.13C>T p.L5= Synonymous 1/3 - 1
11-77301052-G-A c.15G>A p.L5= Synonymous 1/3 - 1
11-77301052-G-C c.15G>C p.L5= Synonymous 1/3 - 1
11-77301052-G-T c.15G>T p.L5= Synonymous 1/3 - 1
11-77301058-C-T c.21C>T p.L7= Synonymous 1/3 - 1
11-77301059-C-G c.22C>G p.R8G Missense 1/3 - 1
11-77301065-G-C c.28G>C p.E10Q Missense 1/3 - 1
11-77301066-A-T c.29A>T p.E10V Missense 1/3 - 1
11-77301069-TGCA-T c.34_36del p.Q12del InFrameDeletion 1/3 - 1
11-77301084-C-A c.47C>A p.T16N Missense 1/3 - 1
11-77301084-C-T c.47C>T p.T16I Missense 1/3 - 1
11-77301086-TC-GG c.49_50delinsGG p.S17G Missense 1/3 - 1
11-77301088-G-A c.51G>A p.S17= Synonymous 1/3 - 1
11-77301121-G-A c.84G>A p.M28I Missense 1/3 - 1
11-77301129-C-T c.92C>T p.A31V Missense 1/3 - 1
11-77301134-GTA-ATG c.97_99delinsATG p.V33M Missense 1/3 - 1
11-77301158-A-C c.121A>C p.R41= Synonymous 1/3 - 1
11-77301160-G-A c.123G>A p.R41= Synonymous 1/3 - 1
11-77301163-CGGTGGCCCACG-C c.126_136del p.V43Lfs*81 Frameshift 1/3 - 1
11-77301163-G-A c.126G>A p.P42= Synonymous 1/3 - 2
11-77301163-G-C c.126G>C p.P42= Synonymous 1/3 - 2
11-77301163-G-T c.126G>T p.P42= Synonymous 1/3 - 2
11-77301174-C-A c.137C>A p.A46D Missense 1/3 - 1
11-77301191-C-A c.154C>A p.L52I Missense 1/3 - 1
11-77301191-CTA-TAT c.154_156delinsTAT p.L52Y Missense 1/3 - 1
11-77301191-CTA-TTT c.154_156delinsTTT p.L52F Missense 1/3 - 1
11-77301194-GC-TG c.157_158delinsTG p.A53C Missense 1/3 - 1
11-77301202-C-T c.165C>T p.F55= Synonymous 1/3 - 1
11-77301204-A-C c.167A>C p.Q56P Missense 1/3 - 1
11-77301231-A-T c.194A>T p.Q65L Missense 1/3 - 1
11-77301233-C-G c.196C>G p.L66V Missense 1/3 - 1
11-77301247-G-A c.210G>A p.Q70= Synonymous 1/3 - 1
11-77301253-C-G c.216C>G p.P72= Synonymous 1/3 - 1
11-77301253-C-T c.216C>T p.P72= Synonymous 1/3 - 1
11-77301262-C-A c.225C>A p.P75= Synonymous 1/3 - 1
11-77301262-C-G c.225C>G p.P75= Synonymous 1/3 - 1
11-77301262-C-T c.225C>T p.P75= Synonymous 1/3 - 1
11-77301266-T-A c.229T>A p.W77R Missense 1/3 - 2
11-77301266-T-C c.229T>C p.W77R Missense 1/3 - 4
11-77301269-A-T c.232A>T p.T78S Missense 1/3 - 2
11-77301272-C-A c.235C>A p.L79M Missense 1/3 - 1
11-77301276-C-T c.239C>T p.T80M Missense 1/3 - 1
11-77301277-G-A c.240G>A p.T80= Synonymous 1/3 - 1
11-77301277-G-C c.240G>C p.T80= Synonymous 1/3 - 1
11-77301277-G-T c.240G>T p.T80= Synonymous 1/3 - 1
11-77301280-C-T c.243C>T p.L81= Synonymous 1/3 - 1
11-77301281-GTC-ATG c.244_246delinsATG p.V82M Missense 1/3 - 1
11-77301287-T-C c.250T>C p.F84L Missense 1/3 - 1
11-77301289-C-A c.252C>A p.F84L Missense 1/3 - 1
11-77301289-C-G c.252C>G p.F84L Missense 1/3 - 1
11-77301285-ACTT-A c.254_256del p.F85del InFrameDeletion 1/3 - 1
11-77301291-T-C c.254T>C p.F85S Missense 1/3 - 2
11-77301294-C-T c.257C>T p.S86L Missense 1/3 - 3
11-77301296-C-T c.259C>T p.L87F Missense 1/3 - 3
11-77301309-T-C c.272T>C p.L91P Missense 1/3 - 1
11-77301312-C-T c.275C>T p.T92I Missense 1/3 - 1
11-77301311-ACT-A c.277_278del p.L93Gfs*34 Frameshift 1/3 - 1
11-77301322-C-A c.285C>A p.G95= Synonymous 1/3 - 1
11-77301322-C-G c.285C>G p.G95= Synonymous 1/3 - 1
11-77301322-C-T c.285C>T p.G95= Synonymous 1/3 - 1
11-77301333-A-T c.296A>T p.N99I Missense 1/3 - 1
11-77301338-TG-GC c.301_302delinsGC p.C101A Missense 1/3 - 3
11-77301341-G-A c.304G>A p.G102S Missense 1/3 - 27
11-77301343-C-A c.306C>A p.G102= Synonymous 1/3 - 2
11-77301343-C-G c.306C>G p.G102= Synonymous 1/3 - 2
11-77301343-C-T c.306C>T p.G102= Synonymous 1/3 - 2
11-77301361-G-A c.324G>A p.M108I Missense 1/3 - 2
11-77301361-G-C c.324G>C p.M108I Missense 1/3 - 1
11-77301361-G-T c.324G>T p.M108I Missense 1/3 - 2
11-77301362-C-T c.325C>T p.L109= Synonymous 1/3 - 1
11-77301365-G-T c.328G>T p.G110W Missense 1/3 - 2
11-77301368-G-A c.331G>A p.G111S Missense 1/3 - 1
11-77301363-TG-T c.332del p.G111Afs*9 Frameshift 1/3 - 2
11-77301363-T-TG c.332dup p.M112Hfs*16 Frameshift 1/3 - 1
11-77301371-A-G c.334A>G p.M112V Missense 1/3 - 1
11-77301374-T-C c.337T>C p.S113P Missense 1/3 - 1
11-77301376-C-A c.339C>A p.S113= Synonymous 1/3 - 2
11-77301376-C-G c.339C>G p.S113= Synonymous 1/3 - 2
11-77301376-C-T c.339C>T p.S113= Synonymous 1/3 - 3
11-77301379-C-A c.342C>A p.P114= Synonymous 1/3 - 2
11-77301379-C-G c.342C>G p.P114= Synonymous 1/3 - 2
11-77301379-C-T c.342C>T p.P114= Synonymous 1/3 - 2
11-77301386-G-A c.349G>A p.G117S Missense 1/3 - 1
11-77301390-C-T c.353C>T p.A118V Missense 1/3 - 2
11-77301391-G-T c.354G>T p.A118= Synonymous 1/3 - 1
11-77301404-G-A c.367G>A p.A123T Missense 1/3 - 3
11-77301418-T-C c.381T>C p.S127= Synonymous 1/3 - 1
11-77301418-T-TA c.381_382insA p.A128Sfs*89 Frameshift 1/3 - 1
11-77301435-A-ACCTG c.399_400insCTGC p.C134Lfs*84 Frameshift 1/3 - 1
11-77301441-C-A c.404C>A p.T135K Missense 1/3 - 1
11-77301443-AG-TT c.406_407delinsTT p.S136F Missense 1/3 - 1
11-77301446-G-T c.409G>T p.A137S Missense 1/3 - 1
11-77301455-A-C c.418A>C p.S140R Missense 1/3 - 1
11-77301460-G-C c.423G>C p.L141F Missense 1/3 - 1
11-77301460-G-T c.423G>T p.L141F Missense 1/3 - 1
11-77301461-G-A c.424G>A p.G142S Missense 1/3 - 5
11-77301464-C-T c.427C>T p.L143= Synonymous 1/3 - 3
11-77301467-A-G c.430A>G p.T144A Missense 1/3 - 1
11-77301469-C-A c.432C>A p.T144= Synonymous 1/3 - 4
11-77301469-C-G c.432C>G p.T144= Synonymous 1/3 - 1
11-77301469-C-T c.432C>T p.T144= Synonymous 1/3 - 4
11-77301471-A-C c.434A>C p.Q145P Missense 1/3 - 7
11-77301472-G-C c.435G>C p.Q145H Missense 1/3 - 4
11-77301472-G-T c.435G>T p.Q145H Missense 1/3 - 4
11-77301476-C-G c.439C>G p.H147D Missense 1/3 - 1
11-77301476-C-T c.439C>T p.H147Y Missense 1/3 - 4
11-77301482-A-G c.445A>G p.S149G Missense 1/3 - 1
11-77301496-C-T c.459C>T p.F153= Synonymous 1/3 - 1
11-77301505-G-A c.468G>A p.K156= Synonymous 1/3 - 2
11-77301509-C-T c.472C>T p.P158S Missense 1/3 - 2
11-77301510-C-G c.473C>G p.P158R Missense 1/3 - 1
11-77301511-C-T c.474C>T p.P158= Synonymous 1/3 - 1
11-77301514-C-A c.477C>A p.I159= Synonymous 1/3 - 2
11-77301514-C-T c.477C>T p.I159= Synonymous 1/3 - 2
11-77301516-G-T c.479G>T p.R160L Missense 1/3 - 1
11-77301521-G-A c.484G>A p.D162N Missense 1/3 - 2
11-77301526-G-C c.489G>C p.L163F Missense 1/3 - 1
11-77301526-G-T c.489G>T p.L163F Missense 1/3 - 1
11-77301533-G-A c.496G>A p.A166T Missense 1/3 - 3
11-77301536-G-A c.499G>A p.V167I Missense 1/3 - 2
11-77301538-C-A c.501C>A p.V167= Synonymous 1/3 - 1
11-77301538-C-G c.501C>G p.V167= Synonymous 1/3 - 1
11-77301538-C-T c.501C>T p.V167= Synonymous 1/3 - 1
11-77301541-C-A c.504C>A p.I168= Synonymous 1/3 - 1
11-77301541-C-G c.504C>G p.I168M Missense 1/3 - 1
11-77301541-C-T c.504C>T p.I168= Synonymous 1/3 - 1
11-77301543-C-T c.506C>T p.T169I Missense 1/3 - 1
11-77301546-A-G c.509A>G p.E170G Missense 1/3 - 1
11-77301556-C-T c.519C>T p.C173= Synonymous 1/3 - 1
11-77301565-C-A c.528C>A p.L176= Synonymous 1/3 - 1
11-77301565-C-G c.528C>G p.L176= Synonymous 1/3 - 1
11-77301565-C-T c.528C>T p.L176= Synonymous 1/3 - 1
11-77301572-AG-TT c.535_536delinsTT p.S179F Missense 1/3 - 1
11-77301577-T-A c.540T>A p.A180= Synonymous 1/3 - 1
11-77301577-T-C c.540T>C p.A180= Synonymous 1/3 - 1
11-77301577-T-G c.540T>G p.A180= Synonymous 1/3 - 1
11-77301584-C-T c.547C>T p.H183Y Missense 1/3 - 2
11-77301590-C-T c.553C>T p.Q185* Nonsense 1/3 - 1
11-77301592-G-A c.555G>A p.Q185= Synonymous 1/3 - 1
11-77301593-G-A c.556G>A p.E186K Missense 1/3 - 1
11-77301600-G-A c.563G>A p.R188Q Missense 1/3 - 7
11-77301629-G-A c.592G>A p.A198T Missense 1/3 - 2
11-77301655-A-C c.618A>C p.A206= Synonymous 1/3 - 1
11-77301655-A-G c.618A>G p.A206= Synonymous 1/3 - 1
11-77301655-A-T c.618A>T p.A206= Synonymous 1/3 - 1
11-77301689-C-T c.619+33C>T - IntronicSNV - 1/2 3
11-77305219-C-T c.619+3563C>T - IntronicSNV - 1/2 1
11-77309533-T-C c.620-5068T>C - IntronicSNV - 1/2 1
11-77314503-A-G c.620-98A>G - IntronicSNV - 1/2 3
11-77314616-G-C c.635G>C p.G212A Missense 2/3 - 1
11-77314622-T-C c.641T>C p.V214A Missense 2/3 - 2
11-77314623-A-C c.642A>C p.V214= Synonymous 2/3 - 1
11-77314629-T-A c.648T>A p.N216K Missense 2/3 - 1
11-77314629-T-G c.648T>G p.N216K Missense 2/3 - 1
11-77314630-C-T c.649C>T p.P217S Missense 2/3 - 1
11-77314631-C-A c.650C>A p.P217Q Missense 2/3 - 1
11-77314636-T-G c.655T>G p.L219V Missense 2/3 - 1
11-77314642-C-T c.661C>T p.L221F Missense 2/3 - 1
11-77314646-C-T c.665C>T p.S222L Missense 2/3 - 2
11-77314647-G-A c.666G>A p.S222= Synonymous 2/3 - 5
11-77314647-G-C c.666G>C p.S222= Synonymous 2/3 - 3
11-77314647-G-T c.666G>T p.S222= Synonymous 2/3 - 3
11-77314660-T-A c.679T>A p.C227S Missense 2/3 - 7
11-77314660-TG-GC c.679_680delinsGC p.C227A Missense 2/3 - 2
11-77314661-G-C c.680G>C p.C227S Missense 2/3 - 7
11-77314672-G-C c.691G>C p.A231P Missense 2/3 - 1
11-77314673-C-T c.692C>T p.A231V Missense 2/3 - 1
11-77314674-A-G c.693A>G p.A231= Synonymous 2/3 - 1
11-77314681-C-A c.700C>A p.Q234K Missense 2/3 - 1
11-77314682-A-C c.701A>C p.Q234P Missense 2/3 - 1
11-77314687-T-C c.706T>C p.F236L Missense 2/3 - 1
11-77314689-T-A c.708T>A p.F236L Missense 2/3 - 1
11-77314689-T-G c.708T>G p.F236L Missense 2/3 - 1
11-77314694-T-C c.713T>C p.V238A Missense 2/3 - 1
11-77314702-C-T c.721C>T p.L241= Synonymous 2/3 - 1
11-77314704-G-A c.723G>A p.L241= Synonymous 2/3 - 1
11-77314704-G-C c.723G>C p.L241= Synonymous 2/3 - 1
11-77314704-G-T c.723G>T p.L241= Synonymous 2/3 - 1
11-77314713-T-A c.732T>A p.S244= Synonymous 2/3 - 1
11-77314713-T-C c.732T>C p.S244= Synonymous 2/3 - 2
11-77314713-T-G c.732T>G p.S244= Synonymous 2/3 - 2
11-77314717-G-T c.736G>T p.G246C Missense 2/3 - 1
11-77317548-G-A c.737-2795G>A - IntronicSNV - 2/2 1
11-77320209-T-C c.737-134T>C - IntronicSNV - 2/2 1
11-77320355-T-C c.749T>C p.M250T Missense 3/3 - 1
11-77320362-G-A c.756G>A p.L252= Synonymous 3/3 - 1
11-77320365-G-A c.759G>A p.M253I Missense 3/3 - 1
11-77320369-A-G c.763A>G p.S255G Missense 3/3 - 1
11-77320378-C-T c.772C>T p.L258F Missense 3/3 - 1
11-77320386-G-T c.780G>T p.W260C Missense 3/3 - 1
11-77320504-G-A c.*82G>A - 3-UTRSNV 3/3 - 1