Varaico: Literature-Extracted Genetic Variants

Gene:GCA
Variant:p.N122K

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
1 paper
NM_012198.5
p.N122K
c.366T>A
Surrounding Variants
1 paper
NM_012198.5
p.N122D
c.364A>G
1 paper
NM_012198.5
p.W124insFs
c.370_371insTG
1 paper
NM_012198.5
p.L121F
c.361C>T
1 paper
NM_012198.5
p.W124*
c.372G>A
1 paper
NM_012198.5
p.A119E
c.356C>A
1 paper
NM_012198.5
p.W118*
c.354G>A
1 paper
NM_012198.5
p.L117R
c.350T>G
2 papers
NM_012198.5
p.M129V
c.385A>G
1 paper
NM_012198.5
p.M129L
c.385A>T
1 paper
NM_012198.5
p.M129T
c.386T>C
1 paper
NM_012198.5
p.K115R
c.344A>G
2 papers
NM_012198.5
p.V131I
c.391G>A
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