Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB13
Variant:p.V312I

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.V312I
c.934G>A
Surrounding Variants
2 papers
NM_152347.5
p.K337*
c.1009A>T
1 paper
NM_152347.5
p.D354insFs
c.1060_1061insA
1 paper
NM_152347.5
p.G372V
c.1115G>T
1 paper
NM_152347.5
p.Q381Q
c.1143A>G
1 paper
NM_152347.5
p.K386N
c.1158G>C
1 paper
NM_152347.5
p.K386N
c.1158G>T
1 paper
NM_152347.5
p.K411R
c.1232A>G
4 papers
NM_152347.5
p.K433*
c.1297A>T
NM_001195192.2
p.K337*
c.1009A>T
1 paper
NM_152347.5
p.K438*
c.1312A>T
1 paper
NM_152347.5
p.Q445L
c.1334A>T
1 paper
NM_152347.5
p.F493I
c.1477T>A
1 paper
NM_152347.5
p.T500I
c.1499C>T
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