Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB5
Variant:p.T1176A

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
2 papers
NM_198529.4
p.T1176A
c.3526A>G
Surrounding Variants
1 paper
NM_198529.4
p.V1175I
c.3523G>A
1 paper
NM_198529.4
p.H1160H
c.3480C>T
1 paper
NM_198529.4
p.M1113I
c.3339G>A
1 paper
NM_198529.4
p.M1113I
c.3339G>C
1 paper
NM_198529.4
p.M1113I
c.3339G>T
1 paper
NM_198529.4
p.M1113L
c.3337A>C
1 paper
NM_198529.4
p.M1113L
c.3337A>T
1 paper
NM_198529.4
p.G1101G
c.3303T>G
1 paper
NM_198529.4
p.K1096R
c.3287A>G
1 paper
NM_198529.4
p.R1094S
c.3280C>A
1 paper
NM_198529.4
p.V1078F
c.3232G>T
1 paper
NM_198529.4
p.L1054P
c.3161T>C
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