Varaico: Literature-Extracted Genetic Variants

Gene:CALR3
Variant:p.Y182H

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.Y182H
c.544T>C
Surrounding Variants
1 paper
NM_145046.5
p.S181F
c.542C>T
1 paper
NM_145046.5
p.I175delFs
c.525delA
1 paper
NM_145046.5
p.Q189fs
c.565_566fs
2 papers
NM_145046.5
p.G188delFs
c.564delA
1 paper
NM_145046.5
p.L174I
c.520C>A
1 paper
NM_145046.5
p.S193F
c.578C>T
1 paper
NM_145046.5
p.H170N
c.508C>A
1 paper
NM_145046.5
p.K164_V165Splc
c.493-1G>T
1 paper
NM_145046.5
p.N201H
c.601A>C
1 paper
NM_145046.5
p.T203I
c.608C>T
2 papers
NM_145046.5
p.T209M
c.626C>T
1 paper
NM_145046.5
p.S214W
c.641C>G
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