Varaico: Literature-Extracted Genetic Variants

Gene:GCA
Variant:p.F58delFs

GCA

266 papers

RefSeq Summary

This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, ...

Pfam Domains

EF-hand_8aa 45–102UCSCEF-hand domain pair
EF-hand_5aa 64–77UCSCEF hand
EF-hand_5aa 107–129UCSCEF hand

Gene Aliases

HGNC Name

grancalcin

HGNC Alias Symbol

GCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012198.5
p.F58delFs
c.173delT
Surrounding Variants
1 paper
NM_012198.5
p.T56insFs
c.167_168insC
1 paper
NM_012198.5
p.T56_Y57insA
c.166_170ins3
1 paper
NM_012198.5
p.A60P
c.178G>C
1 paper
NM_012198.5
p.V61A
c.182T>C
1 paper
NM_012198.5
p.G63V
c.188G>T
1 paper
NM_012198.5
p.G63delFs
c.189delA
1 paper
NM_012198.5
p.Q64fs
c.190_191fs
1 paper
NM_012198.5
p.G51S
c.151G>A
1 paper
NM_012198.5
p.Q64H
c.192G>T
1 paper
NM_012198.5
p.A50V
c.149C>T
1 paper
NM_012198.5
p.S48A
c.142T>G
1 paper
NM_012198.5
p.Y47*
c.141T>G
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