Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB5
Variant:p.S714C

EFCAB5

85 papers

Pfam Domains

EFCAB5_Caa 1311–1503UCSCEFCAB5 C-terminal domain

Gene Aliases

HGNC Name

EF-hand calcium binding domain 5

HGNC Alias Symbol

FLJ46247

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198529.4
p.S714C
c.2140A>T
Surrounding Variants
1 paper
NM_198529.4
p.E720*
c.2158G>T
1 paper
NM_198529.4
p.K675T
c.2024A>C
1 paper
NM_198529.4
p.K650Q
c.1948A>C
1 paper
NM_198529.4
p.Q636P
c.1907A>C
1 paper
NM_198529.4
p.R618*
c.1852C>T
1 paper
NM_198529.4
p.Q616K
c.1846C>A
1 paper
NM_198529.4
p.E611fs
c.1831_1832fs
1 paper
NM_198529.4
p.R610fs
c.1828_1829fs
3 papers
NM_198529.4
p.R610delFs
c.1828_1829delAG
1 paper
NM_198529.4
p.R609H
c.1826G>A
1 paper
NM_198529.4
p.R609C
c.1825C>T
1 paper
NM_198529.4
p.R561S
c.1683G>C
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