Varaico: Literature-Extracted Genetic Variants

Gene:GCA
Variant:p.N170Y

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.N170Y
c.508A>T
Surrounding Variants
1 paper
NM_012198.5
p.N170N
c.510T>C
1 paper
NM_012198.5
p.G171insFs
c.512_513ins4
1 paper
NM_012198.5
p.S168N
c.503G>A
1 paper
NM_012198.5
p.I173del1
c.517_518delATT
1 paper
NM_012198.5
p.R166C
c.496C>T
1 paper
NM_012198.5
p.T159I
c.476C>T
1 paper
NM_012198.5
p.Q158*
c.472C>T
1 paper
NM_012198.5
p.C182C
c.546T>C
1 paper
NM_012198.5
p.P157S
c.469C>T
1 paper
NM_012198.5
p.V183A
c.548T>C
1 paper
NM_012198.5
p.A187A
c.561A>T
1 paper
NM_012198.5
p.D190N
c.568G>A
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