Varaico: Literature-Extracted Genetic Variants

Gene:DOC2B
Variant:p.R213W

DOC2B

30 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 gene...

Pfam Domains

C2aa 141–250UCSCC2 domain
C2aa 281–387UCSCC2 domain

Gene Aliases

HGNC Name

double C2 domain beta

HGNC Previous Symbol

DOC2BL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003585.5
p.R213W
c.637C>T
Surrounding Variants
2 papers
NM_003585.5
p.R209C
c.625C>T
1 paper
NM_003585.5
p.R186H
c.557G>A
1 paper
NM_003585.5
p.L185delFs
c.554_555delGA
1 paper
NM_003585.5
p.L185fs
c.553_554fs
1 paper
NM_003585.5
p.T184S
c.550A>T
1 paper
NM_003585.5
p.R213W
c.637C>T
2 papers
NM_003585.5
p.D163N
c.487G>A
1 paper
NM_003585.5
p.A162V
c.485C>T
2 papers
NM_003585.5
p.D157N
c.469G>A
1 paper
NM_003585.5
p.I270T
c.809T>C
1 paper
NM_003585.5
p.S273S
c.819C>G
1 paper
NM_003585.5
p.V288delFs
c.862delC
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