Varaico: Literature-Extracted Genetic Variants

Gene:GCA
Variant:p.D196D

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
4 papers
NM_012198.5
p.D196D
c.588C>T
Surrounding Variants
1 paper
NM_012198.5
p.D196V
c.587A>T
1 paper
NM_012198.5
p.D196Y
c.586G>T
1 paper
NM_012198.5
p.Q200R
c.599A>G
1 paper
NM_012198.5
p.F192_F205del14
c.574_614del42
1 paper
NM_012198.5
p.Y207H
c.619T>C
1 paper
NM_012198.5
p.D209_F210Splc
c.627+1G>A
1 paper
NM_012198.5
p.D209_F210Splc
c.627+1G>T
1 paper
NM_012198.5
p.D209_F210Splc
c.627+7A>G
1 paper
NM_012198.5
p.D190E
c.570T>A
1 paper
NM_012198.5
p.D190E
c.570T>G
1 paper
NM_012198.5
p.D190G
c.569A>G
1 paper
NM_012198.5
p.D190V
c.569A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."