Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB5
Variant:p.K140Q

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.K140Q
c.418A>C
Surrounding Variants
1 paper
NM_198529.4
p.E148delFs
c.442delG
1 paper
NM_198529.4
p.E148insFs
c.443dupA
2 papers
NM_198529.4
p.E148fs
c.442_443fs
1 paper
NM_198529.4
p.K150delFs
c.450delA
1 paper
NM_198529.4
p.L151fs
c.451_452fs
1 paper
NM_198529.4
p.L151fs
c.451_452fs
1 paper
NM_198529.4
p.R153K
c.458G>A
1 paper
NM_198529.4
p.M166fs
c.496_497fs
1 paper
NM_198529.4
p.M166delFs
c.498delG
1 paper
NM_198529.4
p.E105D
c.315A>C
1 paper
NM_198529.4
p.E105D
c.315A>T
1 paper
NM_198529.4
p.A100delFs
c.298_299delGC
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