PROK2

PROK2 prokineticin 2

Annotation transcript: NM_001126128.2

171 unique variant annotations were identified in 182 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
3-71820969-T-C c.*906A>G - 3-UTRSNV 4/4 - 3
3-71821490-T-A c.*385A>T - 3-UTRSNV 4/4 - 5
3-71821490-T-C c.*385A>G - 3-UTRSNV 4/4 - 5
3-71821490-T-G c.*385A>C - 3-UTRSNV 4/4 - 5
3-71821692-A-G c.*183T>C - 3-UTRSNV 4/4 - 1
3-71821843-G-A c.*32C>T - 3-UTRSNV 4/4 - 1
3-71821878-C-A c.387G>T p.K129N Missense 4/4 - 1
3-71821882-T-G c.383A>C p.Q128P Missense 4/4 - 1
3-71821883-G-T c.382C>A p.Q128K Missense 4/4 - 1
3-71821884-G-A c.381C>T p.A127= Synonymous 4/4 - 1
3-71821884-G-C c.381C>G p.A127= Synonymous 4/4 - 1
3-71821884-G-T c.381C>A p.A127= Synonymous 4/4 - 1
3-71821886-C-A c.379G>T p.A127S Missense 4/4 - 1
3-71821886-C-T c.379G>A p.A127T Missense 4/4 - 3
3-71821890-A-C c.375T>G p.C125W Missense 4/4 - 1
3-71821892-A-C c.373T>G p.C125G Missense 4/4 - 1
3-71821895-T-G c.370A>C p.I124L Missense 4/4 - 4
3-71821900-C-T c.365G>A p.R122Q Missense 4/4 - 2
3-71821901-G-A c.364C>T p.R122* Nonsense 4/4 - 4
3-71821906-A-G c.359T>C p.F120S Missense 4/4 - 1
3-71821909-G-A c.356C>T p.S119L Missense 4/4 - 4
3-71821913-T-C c.352A>G p.T118A Missense 4/4 - 1
3-71821914-C-T c.351G>A p.R117= Synonymous 4/4 - 1
3-71821915-C-T c.350G>A p.R117Q Missense 4/4 - 1
3-71821916-G-A c.349C>T p.R117W Missense 4/4 - 3
3-71821919-A-T c.346T>A p.L116I Missense 4/4 - 1
3-71821921-C-T c.344G>A p.C115Y Missense 4/4 - 1
3-71821923-G-A c.342C>T p.A114= Synonymous 4/4 - 3
3-71821925-C-T c.340G>A p.A114T Missense 4/4 - 2
3-71821930-C-T c.335G>A p.G112D Missense 4/4 - 1
3-71821933-G-T c.332C>A p.P111Q Missense 4/4 - 1
3-71821936-A-G c.329T>C p.L110P Missense 4/4 - 1
3-71821936-AG-TC c.328_329delinsGA p.L110E Missense 4/4 - 1
3-71821937-G-C c.328C>G p.L110V Missense 4/4 - 1
3-71821941-T-C c.324A>G p.P108= Synonymous 4/4 - 1
3-71821948-G-A c.317C>T p.T106I Missense 4/4 - 4
3-71821951-T-C c.314A>G p.H105R Missense 4/4 - 1
3-71821952-G-A c.313C>T p.H105Y Missense 4/4 - 2
3-71821955-G-A c.310C>T p.H104Y Missense 4/4 - 2
3-71821956-C-T c.309G>A p.M103I Missense 4/4 - 3
3-71821959-C-G c.306G>C p.R102S Missense 4/4 - 1
3-71821961-T-C c.304A>G p.R102G Missense 4/4 - 2
3-71821962-C-T c.303G>A p.R101= Synonymous 4/4 - 1
3-71821963-C-G c.302G>C p.R101P Missense 4/4 - 1
3-71821963-C-T c.302G>A p.R101Q Missense 4/4 - 7
3-71821964-G-A c.301C>T p.R101W Missense 4/4 - 9
3-71821964-G-T c.301C>A p.R101= Synonymous 4/4 - 1
3-71821968-A-C c.297T>G p.F99L Missense 4/4 - 1
3-71821968-A-T c.297T>A p.F99L Missense 4/4 - 1
3-71821970-A-G c.295T>C p.F99L Missense 4/4 - 2
3-71821972-AA-GC c.292_293delinsGC p.F98A Missense 4/4 - 1
3-71821967-CA-C c.297del p.F99Lfs*28 Frameshift 4/4 - 3
3-71821967-C-CA c.297dup p.G100Wfs*22 Frameshift 4/4 - 3
3-71821973-A-G c.292T>C p.F98L Missense 4/4 - 2
3-71821978-A-G c.287T>C p.V96A Missense 4/4 - 2
3-71821979-C-T c.286G>A p.V96I Missense 4/4 - 1
3-71823582-C-G c.285+14G>C - IntronicSNV - 3/3 6
3-71823582-C-T c.285+14G>A - IntronicSNV - 3/3 9
3-71823599-C-A c.282G>T p.K94N Missense 3/4 - 1
3-71823601-T-TA c.279_280insT p.K94* Nonsense 3/4 - 1
3-71823605-C-T c.276G>A p.R92= Synonymous 3/4 - 2
3-71823607-T-C c.274A>G p.R92G Missense 3/4 - 1
3-71823609-T-C c.272A>G p.K91R Missense 3/4 - 1
3-71823623-C-A c.258G>T p.K86N Missense 3/4 - 1
3-71823626-TCT-ACA c.253_255delinsTGT p.R85C Missense 3/4 - 1
3-71823626-TCT-ATG c.253_255delinsCAT p.R85H Missense 3/4 - 1
3-71823627-CT-AG c.253_254inv p.R85L Missense 3/4 - 1
3-71823628-T-TA c.252_253insT p.R85* Nonsense 3/4 - 1
3-71823630-C-T c.251G>A p.R84K Missense 3/4 - 1
3-71823631-T-C c.250A>G p.R84G Missense 3/4 - 1
3-71823632-T-A c.249A>T p.E83D Missense 3/4 - 1
3-71823633-T-C c.248A>G p.E83G Missense 3/4 - 1
3-71823634-C-T c.247G>A p.E83K Missense 3/4 - 3
3-71823635-C-T c.246G>A p.Q82= Synonymous 3/4 - 1
3-71823637-G-T c.244C>A p.Q82K Missense 3/4 - 2
3-71823638-C-G c.243G>C p.R81S Missense 3/4 - 1
3-71823638-C-T c.243G>A p.R81= Synonymous 3/4 - 1
3-71823642-C-T c.239G>A p.G80E Missense 3/4 - 3
3-71823645-T-C c.236A>G p.N79S Missense 3/4 - 1
3-71823646-T-C c.235A>G p.N79D Missense 3/4 - 1
3-71823646-T-TA c.234_235insT p.N79* Nonsense 3/4 - 2
3-71823644-A-AT c.236dup p.N79Kfs*43 Frameshift 3/4 - 1
3-71823649-C-T c.232G>A p.G78R Missense 3/4 - 3
3-71823656-G-A c.225C>T p.N75= Synonymous 3/4 - 1
3-71823656-GTT-CTC c.223_225delinsGAG p.N75E Missense 3/4 - 1
3-71824151-C-T c.223-493G>A - IntronicSNV - 2/3 3
3-71828420-C-T c.222+2198G>A - IntronicSNV - 2/3 1
3-71829467-A-G c.222+1151T>C - IntronicSNV - 2/3 1
3-71829914-T-C c.222+704A>G - IntronicSNV - 2/3 1
3-71830019-A-G c.222+599T>C - IntronicSNV - 2/3 2
3-71830545-C-A c.222+73G>T - IntronicSNV - 2/3 1
3-71830619-T-C c.221A>G p.K74R Missense 2/4 - 2
3-71830621-A-C c.219T>G p.R73= Synonymous 2/4 - 2
3-71830621-A-G c.219T>C p.R73= Synonymous 2/4 - 4
3-71830621-A-T c.219T>A p.R73= Synonymous 2/4 - 2
3-71830622-C-T c.218G>A p.R73H Missense 2/4 - 3
3-71830623-G-A c.217C>T p.R73C Missense 2/4 - 15
3-71830630-T-A c.210A>T p.P70= Synonymous 2/4 - 3
3-71830630-T-C c.210A>G p.P70= Synonymous 2/4 - 2
3-71830630-T-G c.210A>C p.P70= Synonymous 2/4 - 2
3-71830631-G-A c.209C>T p.P70L Missense 2/4 - 1
3-71830632-G-A c.208C>T p.P70S Missense 2/4 - 2
3-71830633-A-AT c.206dup p.H69Qfs*6 Frameshift 2/4 - 1
3-71830639-G-A c.201C>T p.S67= Synonymous 2/4 - 1
3-71830639-G-C c.201C>G p.S67R Missense 2/4 - 1
3-71830639-G-T c.201C>A p.S67R Missense 2/4 - 1
3-71830641-T-G c.199A>C p.S67R Missense 2/4 - 1
3-71830642-G-C c.198C>G p.D66E Missense 2/4 - 2
3-71830642-G-T c.198C>A p.D66E Missense 2/4 - 2
3-71830643-TC-CA c.196_197delinsTG p.D66C Missense 2/4 - 1
3-71830645-TCC-ACA c.193_195delinsTGT p.G65C Missense 2/4 - 1
3-71830646-C-T c.194G>A p.G65E Missense 2/4 - 3
3-71830647-C-T c.193G>A p.G65R Missense 2/4 - 2
3-71830653-T-C c.187A>G p.K63E Missense 2/4 - 1
3-71830659-T-C c.181A>G p.M61V Missense 2/4 - 1
3-71830662-G-T c.178C>A p.P60T Missense 2/4 - 1
3-71830666-G-T c.174C>A p.C58* Nonsense 2/4 - 1
3-71830672-C-A c.168G>T p.R56S Missense 2/4 - 1
3-71830677-AT-A c.163del p.I55* Frameshift 2/4 - 9
3-71830677-T-TTA c.162_163insTA p.I55* Nonsense 2/4 - 1
3-71830677-T-TTTA c.162_163insTAA p.S54_I55ins* InFrameInsertion 2/4 - 1
3-71830679-C-T c.161G>A p.S54N Missense 2/4 - 1
3-71830681-C-A c.159G>T p.K53N Missense 2/4 - 2
3-71830681-C-G c.159G>C p.K53N Missense 2/4 - 2
3-71830687-C-G c.153G>C p.W51C Missense 2/4 - 1
3-71830689-A-T c.151T>A p.W51R Missense 2/4 - 2
3-71830690-G-C c.150C>G p.I50M Missense 2/4 - 5
3-71830692-T-C c.148A>G p.I50V Missense 2/4 - 1
3-71830694-C-A c.146G>T p.S49I Missense 2/4 - 1
3-71830696-GAC-CAT c.142_144delinsATG p.V48M Missense 2/4 - 1
3-71830697-AC-GT c.142_143inv p.V48T Missense 2/4 - 1
3-71830698-C-A c.142G>T p.V48F Missense 2/4 - 1
3-71830700-G-A c.140C>T p.A47V Missense 2/4 - 2
3-71830703-C-T c.137G>A p.C46Y Missense 2/4 - 3
3-71830704-A-G c.136T>C p.C46R Missense 2/4 - 1
3-71830711-G-A c.129C>T p.G43= Synonymous 2/4 - 1
3-71830715-C-A c.125G>T p.G42V Missense 2/4 - 2
3-71830718-C-A c.122G>T p.G41V Missense 2/4 - 1
3-71830718-C-T c.122G>A p.G41D Missense 2/4 - 4
3-71830722-A-C c.118T>G p.C40G Missense 2/4 - 1
3-71830726-G-T c.114C>A p.S38= Synonymous 2/4 - 2
3-71830733-TT-AG c.106_107delinsCT p.K36L Missense 2/4 - 1
3-71830733-TT-GC c.106_107delinsGC p.K36A Missense 2/4 - 1
3-71830737-C-T c.103G>A p.D35N Missense 2/4 - 1
3-71830739-C-T c.101G>A p.C34Y Missense 2/4 - 6
3-71834104-T-C c.96+4A>G - IntronicSNV - 1/3 1
3-71834107-C-T c.96+1G>A - IntronicSNV - 1/3 1
3-71834110-C-G c.94G>C p.G32R Missense 1/4 - 5
3-71834110-C-T c.94G>A p.G32R Missense 1/4 - 2
3-71834112-G-A c.92C>T p.T31I Missense 1/4 - 1
3-71834120-G-C c.84C>G p.A28= Synonymous 1/4 - 1
3-71834122-C-T c.82G>A p.A28T Missense 1/4 - 1
3-71834123-G-A c.81C>T p.A27= Synonymous 1/4 - 1
3-71834134-C-G c.70G>C p.A24P Missense 1/4 - 8
3-71834136-C-T c.68G>A p.R23H Missense 1/4 - 2
3-71834141-C-A c.63G>T p.T21= Synonymous 1/4 - 1
3-71834141-C-G c.63G>C p.T21= Synonymous 1/4 - 1
3-71834141-C-T c.63G>A p.T21= Synonymous 1/4 - 1
3-71834142-G-A c.62C>T p.T21M Missense 1/4 - 1
3-71834143-T-G c.61A>C p.T21P Missense 1/4 - 1
3-71834153-C-T c.51G>A p.P17= Synonymous 1/4 - 1
3-71834157-GG-TA c.46_47delinsTA p.P16* Nonsense 1/4 - 1
3-71834157-G-T c.47C>A p.P16Q Missense 1/4 - 1
3-71834166-AA-TC c.37_38delinsGA p.L13E Missense 1/4 - 1
3-71834169-AG-GC c.34_35delinsGC p.L12A Missense 1/4 - 1
3-71834175-AG-GC c.28_29delinsGC p.L10A Missense 1/4 - 1
3-71834177-G-A c.27C>T p.L9= Synonymous 1/4 - 1
3-71834196-C-T c.8G>A p.S3N Missense 1/4 - 3
3-71834198-C-T c.6G>A p.R2= Synonymous 1/4 - 1
3-71834200-T-G c.4A>C p.R2= Synonymous 1/4 - 1
3-71834203-T-G c.1A>C p.M1? Missense 1/4 - 1