Varaico: Literature-Extracted Genetic Variants

Gene:DOC2A
Variant:p.M225I

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
2 papers
NM_003586.3
p.M225I
c.675G>T
Surrounding Variants
2 papers
NM_003586.3
p.M225I
c.675G>C
2 papers
NM_003586.3
p.M225I
c.675G>A
1 paper
NM_003586.3
p.S221S
c.663C>T
1 paper
NM_003586.3
p.Q216Q
c.648G>A
1 paper
NM_003586.3
p.E214D
c.642G>T
1 paper
NM_003586.3
p.E214D
c.642G>C
1 paper
NM_003586.3
p.E214K
c.640G>A
1 paper
NM_003586.3
p.I211delFs
c.633delG
1 paper
NM_003586.3
p.E240G
c.719A>G
1 paper
NM_003586.3
p.R195H
c.584G>A
1 paper
NM_003586.3
p.R265C
c.793C>T
1 paper
NM_003586.3
p.R266W
c.796C>T
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