BUD13 BUD13 homolog

Canonical transcript: NM_032725

122 unique variant annotations were identified in 249 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
11-116619051-G-A c.*147C>T - 3-UTRSNV 10/10 - 9
11-116619073-C-G c.*125G>C - 3-UTRSNV 10/10 - 47
11-116619073-C-T c.*125G>A - 3-UTRSNV 10/10 - 47
11-116619200-A-G c.1858T>C p.*620Glnext*3 Missense 10/10 - 1
11-116619242-C-T c.1816G>A p.Ala606Thr Missense 10/10 - 1
11-116619256-A-G c.1802T>C p.Leu601Pro Missense 10/10 - 1
11-116619390-A-T c.1767-99T>A - IntronicSNV - 9/9 1
11-116620129-G-A c.1767-838C>T - IntronicSNV - 9/9 1
11-116620256-C-A c.1767-965G>T - IntronicSNV - 9/9 11
11-116620670-T-C c.1767-1379A>G - IntronicSNV - 9/9 1
11-116620693-C-T c.1767-1402G>A - IntronicSNV - 9/9 2
11-116620796-C-T c.1767-1505G>A - IntronicSNV - 9/9 2
11-116621770-G-A c.1767-2479C>T - IntronicSNV - 9/9 4
11-116621963-T-G c.1767-2672A>C - IntronicSNV - 9/9 17
11-116622299-G-A c.1767-3008C>T - IntronicSNV - 9/9 1
11-116622723-G-A c.1767-3432C>T - IntronicSNV - 9/9 1
11-116622723-G-C c.1767-3432C>G - IntronicSNV - 9/9 1
11-116622958-G-A c.1767-3667C>T - IntronicSNV - 9/9 2
11-116623659-C-T c.1766+4203G>A - IntronicSNV - 9/9 11
11-116624153-C-A c.1766+3709G>T - IntronicSNV - 9/9 9
11-116624153-C-G c.1766+3709G>C - IntronicSNV - 9/9 9
11-116624703-G-T c.1766+3159C>A - IntronicSNV - 9/9 14
11-116624727-C-G c.1766+3135G>C - IntronicSNV - 9/9 7
11-116625332-T-C c.1766+2530A>G - IntronicSNV - 9/9 2
11-116625362-G-A c.1766+2500C>T - IntronicSNV - 9/9 1
11-116625875-G-A c.1766+1987C>T - IntronicSNV - 9/9 1
11-116625875-G-T c.1766+1987C>A - IntronicSNV - 9/9 1
11-116626226-C-T c.1766+1636G>A - IntronicSNV - 9/9 1
11-116626258-G-A c.1766+1604C>T - IntronicSNV - 9/9 6
11-116626399-C-G c.1766+1463G>C - IntronicSNV - 9/9 1
11-116626399-C-T c.1766+1463G>A - IntronicSNV - 9/9 1
11-116627056-G-A c.1766+806C>T - IntronicSNV - 9/9 2
11-116627097-G-A c.1766+765C>T - IntronicSNV - 9/9 1
11-116627874-T-A c.1754A>T p.Asp585Val Missense 9/10 - 1
11-116628057-G-A c.1685-114C>T - IntronicSNV - 8/9 2
11-116628271-C-T c.1684+211G>A - IntronicSNV - 8/9 1
11-116628396-C-T c.1684+86G>A - IntronicSNV - 8/9 1
11-116628401-T-C c.1684+81A>G - IntronicSNV - 8/9 10
11-116628641-G-A c.1525C>T p.Gln509* Nonsense 8/10 - 1
11-116629093-C-T c.1391G>A p.Arg464Gln Missense 7/10 - 1
11-116629153-G-A c.1361-30C>T - IntronicSNV - 6/9 2
11-116629799-C-T c.1351G>A p.Ala451Thr Missense 6/10 - 1
11-116629865-C-T c.1285G>A p.Gly429Arg Missense 6/10 - 1
11-116629905-G-A c.1255-10C>T - IntronicSNV - 5/9 2
11-116629949-C-T c.1255-54G>A - IntronicSNV - 5/9 4
11-116630600-C-T c.1255-705G>A - IntronicSNV - 5/9 6
11-116631391-T-C c.1254+60A>G - IntronicSNV - 5/9 6
11-116631463-A-T c.1242T>A p.Pro414Pro Synonymous 5/10 - 1
11-116631469-A-T c.1236T>A p.Ser412Arg Missense 5/10 - 1
11-116631482-G-A c.1223C>T p.Pro408Leu Missense 5/10 - 2
11-116631542-G-C c.1163C>G p.Ser388Cys Missense 5/10 - 2
11-116631582-A-G c.1123T>C p.Ser375Pro Missense 5/10 - 1
11-116631617-T-G c.1088A>C p.Gln363Pro Missense 5/10 - 1
11-116631644-G-A c.1061C>T p.Ser354Leu Missense 5/10 - 1
11-116631690-G-A c.1037-22C>T - IntronicSNV - 4/9 6
11-116631707-T-A c.1037-39A>T - IntronicSNV - 4/9 12
11-116631707-T-C c.1037-39A>G - IntronicSNV - 4/9 12
11-116631786-A-T c.1037-118T>A - IntronicSNV - 4/9 2
11-116631912-T-C c.1037-244A>G - IntronicSNV - 4/9 1
11-116632500-C-T c.1036+769G>A - IntronicSNV - 4/9 8
11-116632787-A-G c.1036+482T>C - IntronicSNV - 4/9 1
11-116632956-C-T c.1036+313G>A - IntronicSNV - 4/9 1
11-116632975-G-A c.1036+294C>T - IntronicSNV - 4/9 1
11-116633346-T-A c.959A>T p.Tyr320Phe Missense 4/10 - 1
11-116633407-G-A c.898C>T p.Pro300Ser Missense 4/10 - 1
11-116633503-G-A c.802C>T p.Arg268Cys Missense 4/10 - 1
11-116633510-TCT-CAT c.794_795delinsTG p.Arg265Met Missense 4/10 - 1
11-116633511-C-T c.794G>A p.Arg265Lys Missense 4/10 - 1
11-116633539-G-A c.766C>T p.Leu256Phe Missense 4/10 - 1
11-116633554-T-G c.751A>C p.Thr251Pro Missense 4/10 - 1
11-116633575-C-T c.730G>A p.Val244Ile Missense 4/10 - 1
11-116633580-C-A c.725G>T p.Arg242Ile Missense 4/10 - 1
11-116633586-G-A c.719C>T p.Ser240Phe Missense 4/10 - 1
11-116633619-C-T c.686G>A p.Arg229Lys Missense 4/10 - 1
11-116633635-C-A c.670G>T p.Asp224Tyr Missense 4/10 - 1
11-116633689-G-A c.616C>T p.Pro206Ser Missense 4/10 - 1
11-116633721-T-G c.584A>C p.His195Pro Missense 4/10 - 1
11-116633758-C-T c.547G>A p.Asp183Asn Missense 4/10 - 1
11-116633768-CCT-TGT c.536_537delinsCA p.Arg179Thr Missense 4/10 - 1
11-116633772-C-T c.533G>A p.Arg178Lys Missense 4/10 - 1
11-116633772-CT-CA c.532delinsT p.Arg178Trp Missense 4/10 - 1
11-116633825-C-A c.480G>T p.Pro160Pro Synonymous 4/10 - 4
11-116633825-C-T c.480G>A p.Pro160Pro Synonymous 4/10 - 4
11-116633862-G-A c.443C>T p.Pro148Leu Missense 4/10 - 29
11-116633866-T-C c.439A>G p.Thr147Ala Missense 4/10 - 1
11-116633875-G-A c.430C>T p.Arg144Cys Missense 4/10 - 1
11-116633947-G-A c.358C>T p.Arg120Cys Missense 4/10 - 13
11-116633974-C-T c.331G>A p.Glu111Lys Missense 4/10 - 1
11-116634557-T-C c.323-575A>G - IntronicSNV - 3/9 8
11-116634585-T-A c.323-603A>T - IntronicSNV - 3/9 1
11-116634585-T-C c.323-603A>G - IntronicSNV - 3/9 1
11-116634859-C-T c.323-877G>A - IntronicSNV - 3/9 1
11-116635282-C-T c.322+796G>A - IntronicSNV - 3/9 3
11-116635613-C-A c.322+465G>T - IntronicSNV - 3/9 1
11-116635784-A-G c.322+294T>C - IntronicSNV - 3/9 6
11-116636101-C-T c.299G>A p.Ser100Asn Missense 3/10 - 1
11-116636108-G-A c.292C>T p.Arg98Cys Missense 3/10 - 1
11-116636108-G-T c.292C>A p.Arg98Ser Missense 3/10 - 1
11-116636141-G-A c.259C>T p.Arg87Trp Missense 3/10 - 1
11-116636162-C-G c.238G>C p.Val80Leu Missense 3/10 - 1
11-116637002-G-A c.238-840C>T - IntronicSNV - 2/9 1
11-116637146-C-T c.238-984G>A - IntronicSNV - 2/9 4
11-116637985-A-C c.238-1823T>G - IntronicSNV - 2/9 1
11-116638751-G-A c.237+2094C>T - IntronicSNV - 2/9 1
11-116639104-A-G c.237+1741T>C - IntronicSNV - 2/9 40
11-116639104-A-T c.237+1741T>A - IntronicSNV - 2/9 40
11-116639692-C-T c.237+1153G>A - IntronicSNV - 2/9 3
11-116639941-A-G c.237+904T>C - IntronicSNV - 2/9 6
11-116639941-A-T c.237+904T>A - IntronicSNV - 2/9 6
11-116640237-A-G c.237+608T>C - IntronicSNV - 2/9 12
11-116640368-A-G c.237+477T>C - IntronicSNV - 2/9 6
11-116640768-G-A c.237+77C>T - IntronicSNV - 2/9 3
11-116640903-G-A c.179C>T p.Ala60Val Missense 2/10 - 1
11-116641028-C-T c.144-90G>A - IntronicSNV - 1/9 2
11-116642100-A-G c.144-1162T>C - IntronicSNV - 1/9 1
11-116642100-A-T c.144-1162T>A - IntronicSNV - 1/9 1
11-116642137-C-T c.144-1199G>A - IntronicSNV - 1/9 8
11-116643554-C-T c.127G>A p.Gly43Arg Missense 1/10 - 1
11-116643591-GGA-GAG c.88_89delinsCT p.Ser30Leu Missense 1/10 - 1
11-116643617-C-A c.64G>T p.Ala22Ser Missense 1/10 - 2
11-116643617-C-T c.64G>A p.Ala22Thr Missense 1/10 - 2
11-116643624-CC-AC c.57delinsT p.Gly19Gly Missense 1/10 - 1