Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB13
Variant:p.S269fs

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.S269fs
c.805_806fs
Surrounding Variants
2 papers
NM_152347.5
p.S269Splc
c.806-1G>A
2 papers
NM_001195192.2
p.I183V
c.547A>G
NM_152347.5
p.I279V
c.835A>G
1 paper
NM_152347.5
p.Q286*
c.856C>T
1 paper
NM_152347.5
p.Q286H
c.858G>C
1 paper
NM_152347.5
p.Q286H
c.858G>T
1 paper
NM_152347.5
p.E290D
c.870G>C
1 paper
NM_152347.5
p.V312I
c.934G>A
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
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