Varaico: Literature-Extracted Genetic Variants

Gene:DOC2A
Variant:p.T313T

DOC2A

59 papers

RefSeq Summary

There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes ...

Pfam Domains

C2aa 104–213UCSCC2 domain
C2aa 266–372UCSCC2 domain

Gene Aliases

HGNC Name

double C2 domain alpha

HGNC Previous Name

double C2-like domains, alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003586.3
p.T313T
c.939T>C
Surrounding Variants
1 paper
NM_003586.3
p.K312K
c.936G>A
1 paper
NM_003586.3
p.L314L
c.942C>G
1 paper
NM_003586.3
p.K311K
c.933G>A
1 paper
NM_003586.3
p.C308delFs
c.924delA
1 paper
NM_003586.3
p.C308R
c.922T>C
1 paper
NM_003586.3
p.C308fs
c.922_923fs
1 paper
NM_003586.3
p.T307insFs
c.920_921insA
1 paper
NM_003586.3
p.K301M
c.902A>T
1 paper
NM_003586.3
p.E321K
c.961G>A
1 paper
NM_003586.3
p.W341R
c.1021T>C
1 paper
NM_003586.3
p.I345T
c.1034T>C
1 paper
NM_003586.3
p.S287W
c.860C>G
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