CKAP5 cytoskeleton associated protein 5

Canonical transcript: NM_014756

85 unique variant annotations were identified in 70 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
11-46765585-GCT-GAG c.5905_5906delinsCT p.Ser1969Leu Missense 43/43 - 1
11-46765586-CT-GC c.5905_5906delinsGC p.Ser1969Ala Missense 43/43 - 1
11-46766091-G-A c.5561C>T p.Thr1854Met Missense 42/43 - 1
11-46771358-T-G c.5524+466A>C - IntronicSNV - 41/42 1
11-46773354-T-C c.4954-270A>G - IntronicSNV - 37/42 1
11-46774672-C-T c.4877+188G>A - IntronicSNV - 36/42 1
11-46774690-A-AA c.4877+172dup - IntronicInsertion - 36/42 1
11-46776093-A-G c.4690-1046T>C - IntronicSNV - 35/42 1
11-46777392-T-A c.4690-2345A>T - IntronicSNV - 35/42 1
11-46777392-T-C c.4690-2345A>G - IntronicSNV - 35/42 1
11-46780903-T-C c.4484A>G p.Asn1495Ser Missense 34/43 - 1
11-46780903-T-G c.4484A>C p.Asn1495Thr Missense 34/43 - 1
11-46781718-A-T c.4394+444T>A - IntronicSNV - 33/42 1
11-46782472-C-A c.4222-138G>T - IntronicSNV - 32/42 1
11-46784697-A-C c.3720T>G p.Gly1240Gly Synonymous 30/43 - 1
11-46786780-G-A c.3438C>T p.Ser1146Ser Synonymous 28/43 - 1
11-46787573-T-C c.3412-767A>G - IntronicSNV - 27/42 4
11-46792695-A-T c.2992-163T>A - IntronicSNV - 24/42 1
11-46794848-A-G c.2992-2316T>C - IntronicSNV - 24/42 1
11-46794848-A-T c.2992-2316T>A - IntronicSNV - 24/42 1
11-46796683-A-C c.2991+1122T>G - IntronicSNV - 24/42 1
11-46798631-A-G c.2862+358T>C - IntronicSNV - 23/42 8
11-46799032-TT-GC c.2818_2819delinsGC p.Lys940Ala Missense 23/43 - 1
11-46799766-C-T c.2671G>A p.Ala891Thr Missense 22/43 - 1
11-46799807-CT-GA c.2629_2630delinsTC p.Arg877Ser Missense 22/43 - 1
11-46800460-A-G c.2434-311T>C - IntronicSNV - 20/42 1
11-46801859-G-A c.2318C>T p.Thr773Ile Missense 20/43 - 1
11-46803700-C-A c.2249+1124G>T - IntronicSNV - 18/42 1
11-46803700-C-G c.2249+1124G>C - IntronicSNV - 18/42 1
11-46803700-C-T c.2249+1124G>A - IntronicSNV - 18/42 1
11-46804900-A-C c.2173T>G p.Ser725Ala Missense 18/43 - 1
11-46806553-C-T c.1969-330G>A - IntronicSNV - 16/42 1
11-46808600-T-C c.1968+1631A>G - IntronicSNV - 16/42 1
11-46809210-A-G c.1968+1021T>C - IntronicSNV - 16/42 1
11-46809382-G-A c.1968+849C>T - IntronicSNV - 16/42 1
11-46809382-G-C c.1968+849C>G - IntronicSNV - 16/42 1
11-46810916-C-A c.1876-593G>T - IntronicSNV - 15/42 4
11-46814785-A-G c.1650+2359T>C - IntronicSNV - 13/42 1
11-46815633-C-G c.1650+1511G>C - IntronicSNV - 13/42 1
11-46815633-C-T c.1650+1511G>A - IntronicSNV - 13/42 1
11-46818043-A-T c.1467+319T>A - IntronicSNV - 12/42 1
11-46818098-G-A c.1467+264C>T - IntronicSNV - 12/42 1
11-46818098-G-C c.1467+264C>G - IntronicSNV - 12/42 1
11-46818814-G-A c.1339-324C>T - IntronicSNV - 11/42 1
11-46819363-G-T c.1330C>A p.Leu444Ile Missense 11/43 - 1
11-46819382-TAG-GAC c.1309_1311delinsGTC p.Leu437Val Missense 11/43 - 1
11-46819413-C-G c.1280G>C p.Cys427Ser Missense 11/43 - 1
11-46819414-A-T c.1279T>A p.Cys427Ser Missense 11/43 - 1
11-46819688-TT-GC c.1117_1118delinsGC p.Lys373Ala Missense 10/43 - 1
11-46820899-A-G c.1084-1177T>C - IntronicSNV - 9/42 1
11-46822686-C-A c.1083+64G>T - IntronicSNV - 9/42 1
11-46824241-G-A c.979-1387C>T - IntronicSNV - 8/42 1
11-46828273-T-C c.978+1308A>G - IntronicSNV - 8/42 1
11-46828799-A-T c.978+782T>A - IntronicSNV - 8/42 1
11-46828895-A-G c.978+686T>C - IntronicSNV - 8/42 1
11-46829174-T-A c.978+407A>T - IntronicSNV - 8/42 1
11-46830575-T-C c.864+375A>G - IntronicSNV - 7/42 1
11-46830847-G-A c.864+103C>T - IntronicSNV - 7/42 2
11-46830984-AG-GC c.829_830delinsGC p.Leu277Ala Missense 7/43 - 1
11-46831431-A-C c.631-7T>G - IntronicSNV - 5/42 1
11-46832583-G-C c.604C>G p.Pro202Ala Missense 5/43 - 1
11-46832588-CT-GC c.598_599delinsGC p.Arg200Ala Missense 5/43 - 6
11-46832619-C-T c.568G>A p.Glu190Lys Missense 5/43 - 2
11-46833092-T-C c.459-364A>G - IntronicSNV - 4/42 1
11-46837201-T-C c.458+548A>G - IntronicSNV - 4/42 5
11-46837758-TT-GC c.448_449delinsGC p.Lys150Ala Missense 4/43 - 1
11-46837891-T-C c.316A>G p.Lys106Glu Missense 4/43 - 1
11-46837902-TT-GC c.304_305delinsGC p.Lys102Ala Missense 4/43 - 1
11-46837921-T-C c.286A>G p.Lys96Glu Missense 4/43 - 1
11-46838838-T-A c.252-883A>T - IntronicSNV - 3/42 1
11-46839951-TT-GC c.160_161delinsGC p.Lys54Ala Missense 3/43 - 1
11-46839989-TTC-TTT c.121delinsA p.Glu41Lys Missense 3/43 - 1
11-46840045-C-T c.67G>A p.Ala23Thr Missense 3/43 - 1
11-46840050-CA-GA c.62delinsC p.Trp21Ser Missense 3/43 - 1
11-46840050-CA-GC c.61_62delinsGC p.Trp21Ala Missense 3/43 - 1
11-46842729-GTG-GAG c.53delinsT p.His18Leu Missense 2/43 - 1
11-46842741-CTG-GAC c.40_42delinsGTC p.Gln14Val Missense 2/43 - 1
11-46842841-C-A c.-37-22G>T - IntronicSNV - 1/42 2
11-46842841-C-T c.-37-22G>A - IntronicSNV - 1/42 2
11-46844849-C-T c.-37-2030G>A - IntronicSNV - 1/42 1
11-46849360-G-A c.-37-6541C>T - IntronicSNV - 1/42 11
11-46856335-A-G c.-38+11436T>C - intron_variant - 1/42 1
11-46857059-C-A c.-38+10712G>T - intron_variant - 1/42 1
11-46857059-C-T c.-38+10712G>A - intron_variant - 1/42 1
11-46864705-T-C c.-38+3066A>G - intron_variant - 1/42 1