Varaico: Literature-Extracted Genetic Variants

Gene:GCA
Variant:p.D102_R103Splc

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.D102_R103Splc
c.307-1G>C
Surrounding Variants
1 paper
NM_012198.5
p.D102_R103Splc
c.307-2A>G
1 paper
NM_012198.5
p.R103K
c.308G>A
1 paper
NM_012198.5
p.D104Y
c.310G>T
1 paper
NM_012198.5
p.D104_H105delFs
c.312_315del4
1 paper
NM_012198.5
p.K108E
c.322A>G
1 paper
NM_012198.5
p.M109L
c.325A>T
2 papers
NM_012198.5
p.G110R
c.328G>A
1 paper
NM_012198.5
p.A113T
c.337G>A
1 paper
NM_012198.5
p.K115R
c.344A>G
1 paper
NM_012198.5
p.L117R
c.350T>G
1 paper
NM_012198.5
p.W118*
c.354G>A
1 paper
NM_012198.5
p.A119E
c.356C>A
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