Varaico: Literature-Extracted Genetic Variants

Gene:DOC2A
Variant:p.P58insFs

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.P58insFs
c.173_174insA
Surrounding Variants
1 paper
NM_003586.3
p.P63S
c.187C>T
1 paper
NM_003586.3
p.P64fs
c.190_191fs
1 paper
NM_003586.3
p.A65V
c.194C>T
1 paper
NM_003586.3
p.G48C
c.142G>T
6 papers
NM_003586.3
p.G48S
c.142G>A
1 paper
NM_003586.3
p.G45S
c.133G>A
1 paper
NM_003586.3
p.F36L
c.108C>G
1 paper
NM_003586.3
p.F36L
c.108C>A
1 paper
NM_003586.3
p.F36L
c.106T>C
1 paper
NM_003586.3
p.Y35F
c.104A>T
1 paper
NM_003586.3
p.R27W
c.79C>T
1 paper
NM_003586.3
p.A18S
c.52G>T
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