Varaico: Literature-Extracted Genetic Variants

Gene:GCA
Variant:p.Y6*

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
2 papers
NM_012198.5
p.Y6*
c.18C>A
Surrounding Variants
1 paper
NM_012198.5
p.G8R
c.22G>A
1 paper
NM_012198.5
p.G5R
c.13G>C
1 paper
NM_012198.5
p.P4P
c.12G>A
1 paper
NM_012198.5
p.P4P
c.12G>C
1 paper
NM_012198.5
p.P4P
c.12G>T
1 paper
NM_012198.5
p.G9R
c.25G>A
1 paper
NM_012198.5
p.G9G
c.27G>A
1 paper
NM_012198.5
p.Y3N
c.7T>A
1 paper
NM_012198.5
p.A2T
c.4G>A
1 paper
NM_012198.5
p.M1_A2insFs
c.3_4insCT
1 paper
NM_012198.5
p.G9_F10Splc
c.28-23C>T
1 paper
NM_012198.5
p.N12T
c.35A>C
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