Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB13
Variant:p.E12D

EFCAB13

60 papers

Gene Aliases

HGNC Name

EF-hand calcium binding domain 13

HGNC Previous Symbol

C17orf57

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152347.5
p.E12D
c.36G>C
Surrounding Variants
1 paper
NM_152347.5
p.E53K
c.157G>A
1 paper
NM_152347.5
p.I70M
c.210C>G
1 paper
NM_152347.5
p.S90delFs
c.269delG
1 paper
NM_152347.5
p.E101E
c.303G>A
1 paper
NM_152347.5
p.S110*
c.329C>A
1 paper
NM_152347.5
p.S110*
c.329C>G
1 paper
NM_152347.5
p.K113K
c.339G>A
1 paper
NM_152347.5
p.C122R
c.364T>C
1 paper
NM_152347.5
p.S135S
c.405A>G
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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."