Varaico: Literature-Extracted Genetic Variants

Gene:CALR3
Variant:p.F56L

CALR3

99 papers

RefSeq Summary

The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to th...

Pfam Domains

Calreticulinaa 23–248UCSCCalreticulin family
Calreticulinaa 247–318UCSCCalreticulin family

Gene Aliases

HGNC Name

calreticulin 3

HGNC Alias Symbols

CRT2; FLJ25355; MGC26577; CT93

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145046.5
p.F56L
c.168T>G
Surrounding Variants
1 paper
NM_145046.5
p.F56L
c.168T>A
1 paper
NM_145046.5
p.F56L
c.166T>C
1 paper
NM_145046.5
p.K55E
c.163A>G
1 paper
NM_145046.5
p.G54D
c.161G>A
1 paper
NM_145046.5
p.K60fs
c.178_179fs
1 paper
NM_145046.5
p.K60delFs
c.179_180delTT
1 paper
NM_145046.5
p.D63N
c.187G>A
1 paper
NM_145046.5
p.R50*
c.148A>T
1 paper
NM_145046.5
p.F49insFs
c.147dupT
1 paper
NM_145046.5
p.D63E
c.189T>G
1 paper
NM_145046.5
p.D63E
c.189T>A
2 papers
NM_145046.5
p.G65Splc
c.193+1G>A
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