Varaico: Literature-Extracted Genetic Variants

Gene:GCA
Variant:p.Q79delFs

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.Q79delFs
c.235delC
Surrounding Variants
1 paper
NM_012198.5
p.T78S
c.232A>T
1 paper
NM_012198.5
p.L77L
c.231G>A
1 paper
NM_012198.5
p.Q79Q
c.237G>A
1 paper
NM_012198.5
p.L77*
c.230T>A
5 papers
NM_012198.5
p.S80A
c.238T>G
1 paper
NM_012198.5
p.C76*
c.228T>A
1 paper
NM_012198.5
p.G81R
c.241G>A
1 paper
NM_012198.5
p.C76R
c.226T>C
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.N83N
c.249T>C
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