Varaico: Literature-Extracted Genetic Variants

Gene:CALR3
Variant:p.I130fs

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.I130fs
c.388_389fs
Surrounding Variants
1 paper
NM_145046.5
p.I130V
c.388A>G
1 paper
NM_145046.5
p.Y129insFs
c.387dupT
1 paper
NM_145046.5
p.Q127Q
c.381G>A
1 paper
NM_145046.5
p.S126L
c.377C>T
1 paper
NM_145046.5
p.V112_F113insFs
c.336_337ins4
1 paper
NM_145046.5
p.V112D
c.335T>A
1 paper
NM_145046.5
p.Q101K
c.301C>A
1 paper
NM_145046.5
p.V92D
c.275T>A
1 paper
NM_145046.5
p.G88_K89insFs
c.264_265insC
1 paper
NM_145046.5
p.N86Y
c.256A>T
1 paper
NM_145046.5
p.P83P
c.249G>A
1 paper
NM_145046.5
p.P83L
c.248C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."