Varaico: Literature-Extracted Genetic Variants

Gene:CALR
Variant:p.E372fs

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
4 papers
NM_004343.4
p.E372fs
c.1114_1115fs
Surrounding Variants
1 paper
NM_004343.4
p.E372K
c.1114G>A
1 paper
NM_004343.4
p.E372Q
c.1114G>C
5 papers
NM_004343.4
p.E372fs
c.1114_1115fs
1 paper
NM_004343.4
p.E372*
c.1114G>T
3 papers
NM_004343.4
p.E372delFs
c.1116delA
1 paper
NM_004343.4
p.E372_E380delFs
c.1115_1139del25
9 papers
NM_004343.4
p.E372_A382delFs
c.1116_1146del31
3 papers
NM_004343.4
p.E371D
c.1113A>C
1 paper
NM_004343.4
p.E372G
c.1115A>G
2 papers
NM_004343.4
p.E371D
c.1113A>T
1 paper
NM_004343.4
p.E372V
c.1115A>T
1 paper
NM_004343.4
p.E372_E381delFs
c.1116_1141del26
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