Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB13

EFCAB13

60 papers

Gene Aliases

HGNC Name

EF-hand calcium binding domain 13

HGNC Previous Symbol

C17orf57

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
4 papers
NM_152347.5
p.Y546*
c.1638T>A
4 papers
NM_152347.5
p.Y546*
c.1638T>G
3 papers
NM_152347.5
p.R211*
c.631C>T
3 papers
NM_152347.5
p.R236*
c.706C>T
3 papers
NM_152347.5
p.S269delFs
c.805delA
3 papers
NM_152347.5
p.K433*
c.1297A>T
3 papers
NM_152347.5
p.Y559*
c.1677C>A
3 papers
NM_152347.5
p.Y559*
c.1677C>G
2 papers
NM_152347.5
p.R185*
c.553C>T
2 papers
NM_152347.5
p.S269Splc
c.806-1G>A
2 papers
NM_152347.5
p.K337*
c.1009A>T
2 papers
NM_152347.5
p.T577R
c.1730C>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."