Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB13
Variant:p.N624N

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.N624N
c.1872T>C
Surrounding Variants
1 paper
NM_152347.5
p.D611N
c.1831G>A
1 paper
NM_152347.5
p.E649G
c.1946A>G
1 paper
NM_152347.5
p.T593T
c.1779G>A
2 papers
NM_152347.5
p.T577R
c.1730C>G
1 paper
NM_152347.5
p.T577delFs
c.1731delA
1 paper
NM_152347.5
p.T577fs
c.1729_1730fs
1 paper
NM_152347.5
p.E576Splc
c.1726+1G>A
3 papers
NM_152347.5
p.Y559*
c.1677C>A
3 papers
NM_152347.5
p.Y559*
c.1677C>G
1 paper
NM_152347.5
p.T551A
c.1651A>G
4 papers
NM_152347.5
p.Y546*
c.1638T>A
4 papers
NM_152347.5
p.Y546*
c.1638T>G
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