Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB5
Variant:p.G1271S

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.G1271S
c.3811G>A
Surrounding Variants
1 paper
NM_198529.4
p.R1274S
c.3822G>C
1 paper
NM_198529.4
p.R1274S
c.3822G>T
1 paper
NM_198529.4
p.G1260E
c.3779G>A
3 papers
NM_198529.4
p.R1256C
c.3766C>T
1 paper
NM_198529.4
p.E1301K
c.3901G>A
1 paper
NM_198529.4
p.K1307fs
c.3919_3920fs
1 paper
NM_198529.4
p.K1308insFs
c.3922dupA
1 paper
NM_198529.4
p.K1308delFs
c.3922delA
1 paper
NM_198529.4
p.K1308fs
c.3922_3923fs
1 paper
NM_198529.4
p.A1385_V1386del2
c.4153_4157del6
1 paper
NM_198529.4
p.Y1409fs
c.4225_4226fs
1 paper
NM_198529.4
p.L1210fs
c.3628_3629fs
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