Varaico: Literature-Extracted Genetic Variants

Gene:CALR
Variant:p.E380insFs

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.E380insFs
c.1139_1140insTC
Surrounding Variants
1 paper
NM_004343.4
p.E381insFs
c.1141dupG
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
1 paper
NM_004343.4
p.E380K
c.1138G>A
1 paper
NM_004343.4
p.E380Q
c.1138G>C
1 paper
NM_004343.4
p.E380D
c.1140G>C
5 papers
NM_004343.4
p.E380fs
c.1138_1139fs
2 papers
NM_004343.4
p.E380*
c.1138G>T
1 paper
NM_004343.4
p.E380D
c.1140G>T
4 papers
NM_004343.4
p.E380delFs
c.1139delA
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