Varaico: Literature-Extracted Genetic Variants

Gene:GCA
Variant:p.V68A

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.V68A
c.203T>C
Surrounding Variants
1 paper
NM_012198.5
p.V68E
c.203T>A
1 paper
NM_012198.5
p.D69N
c.205G>A
1 paper
NM_012198.5
p.D69G
c.206A>G
1 paper
NM_012198.5
p.E67K
c.199G>A
1 paper
NM_012198.5
p.G66G
c.198T>C
1 paper
NM_012198.5
p.E71*
c.211G>T
1 paper
NM_012198.5
p.E72K
c.214G>A
1 paper
NM_012198.5
p.E72insFs
c.214_215insA
1 paper
NM_012198.5
p.Q74Q
c.222G>A
2 papers
NM_012198.5
p.Q74H
c.222G>C
2 papers
NM_012198.5
p.Q74H
c.222G>T
1 paper
NM_012198.5
p.C76R
c.226T>C
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