Varaico: Literature-Extracted Genetic Variants

Gene:CALR
Variant:p.E383fs

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
3 papers
NM_004343.4
p.E383fs
c.1147_1148fs
Surrounding Variants
4 papers
NM_004343.4
p.E383fs
c.1147_1148fs
3 papers
NM_004343.4
p.E383_K385Fs
c.1147_1154delinsTGTCFs
1 paper
NM_004343.4
p.E383_D388delFs
c.1148_1163del16
2 papers
NM_004343.4
p.E383insFs
c.1148_1149ins8
1 paper
NM_004343.4
p.E383insFs
c.1148_1149ins5
2 papers
NM_004343.4
p.E383V
c.1148A>T
1 paper
NM_004343.4
p.D387_E403del0
c.1161_1208del48
2 papers
NM_004343.4
p.E383_K385Fs
c.1148_1154delinsGACFs
2 papers
NM_004343.4
p.A382G
c.1145C>G
2 papers
NM_004343.4
p.A382V
c.1145C>T
2 papers
NM_004343.4
p.E383_D384delFs
c.1147_1151del5
1 paper
NM_004343.4
p.E383_K385Fs
c.1149_1154delinsTCCTCCTTGTCFs
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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."