Varaico: Literature-Extracted Genetic Variants

Gene:CALR
Variant:p.E380D

CALR

1,150 papers

RefSeq Summary

Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, ...

Pfam Domains

Calreticulinaa 23–259UCSCCalreticulin family
Calreticulinaa 257–332UCSCCalreticulin family

Gene Aliases

HGNC Name

calreticulin

HGNC Alias Symbols

SSA; cC1qR; CRT; FLJ26680; CALR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004343.4
p.E380D
c.1140G>T
Surrounding Variants
1 paper
NM_004343.4
p.E380D
c.1140G>C
1 paper
NM_004343.4
p.E381insFs
c.1141dupG
3 papers
NM_004343.4
p.E380insFs
c.1139_1140insTC
9 papers
NM_004343.4
p.E380G
c.1139A>G
1 paper
NM_004343.4
p.E380V
c.1139A>T
3 papers
NM_004343.4
p.E380delFs
c.1140delG
1 paper
NM_004343.4
p.E380Fs
c.1139_1140delinsCFs
7 papers
NM_004343.4
p.E381fs
c.1141_1142fs
4 papers
NM_004343.4
p.E381*
c.1141G>T
3 papers
NM_004343.4
p.E381fs
c.1141_1142fs
16 papers
NM_004343.4
p.E381A
c.1142A>C
2 papers
NM_004343.4
p.E381G
c.1142A>G
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."