Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB13
Variant:p.R211*

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
3 papers
NM_152347.5
p.R211*
c.631C>T
Surrounding Variants
1 paper
NM_152347.5
p.D207Y
c.619G>T
1 paper
NM_152347.5
p.V217insFs
c.650_651insG
2 papers
NM_152347.5
p.R185*
c.553C>T
1 paper
NM_152347.5
p.S135S
c.405A>G
1 paper
NM_152347.5
p.C122R
c.364T>C
1 paper
NM_152347.5
p.K113K
c.339G>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.E101E
c.303G>A
1 paper
NM_152347.5
p.S90delFs
c.269delG
1 paper
NM_152347.5
p.I70M
c.210C>G
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