Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB5
Variant:p.G325R

EFCAB5

85 papers

Pfam Domains

EFCAB5_Caa 1311–1503UCSCEFCAB5 C-terminal domain

Gene Aliases

HGNC Name

EF-hand calcium binding domain 5

HGNC Alias Symbol

FLJ46247

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198529.4
p.G325R
c.973G>C
Surrounding Variants
1 paper
NM_198529.4
p.G325R
c.973G>A
1 paper
NM_198529.4
p.P320S
c.958C>T
1 paper
NM_198529.4
p.E315A
c.944A>C
1 paper
NM_198529.4
p.S307*
c.920C>A
1 paper
NM_198529.4
p.S307*
c.920C>G
1 paper
NM_198529.4
p.M303I
c.909G>A
3 papers
NM_198529.4
p.W296*
c.888G>A
3 papers
NM_198529.4
p.W296*
c.887G>A
1 paper
NM_198529.4
p.Q287K
c.859C>A
1 paper
NM_198529.4
p.E348del1
c.1042_1043delGAA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."