Varaico: Literature-Extracted Genetic Variants

Gene:GCA

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
1–12 of 131 variants
5 papers
NM_012198.5
p.S80A
c.238T>G
4 papers
NM_012198.5
p.D196D
c.588C>T
2 papers
NM_012198.5
p.Y6*
c.18C>A
2 papers
NM_012198.5
p.V26_P27insFs
c.78_79insT
2 papers
NM_012198.5
p.V68A
c.203T>C
2 papers
NM_012198.5
p.Q74H
c.222G>C
2 papers
NM_012198.5
p.Q74H
c.222G>T
2 papers
NM_012198.5
p.Q79delFs
c.235delC
2 papers
NM_012198.5
p.D102_R103Splc
c.307-1G>C
2 papers
NM_012198.5
p.G110R
c.328G>A
2 papers
NM_012198.5
p.M129V
c.385A>G
2 papers
NM_012198.5
p.V131I
c.391G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."