Varaico: Literature-Extracted Genetic Variants

Gene:KDELR1

KDELR1

44 papers

RefSeq Summary

Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compart...

Pfam Domains

ER_lumen_receptaa 28–169UCSCER lumen protein retaining receptor

Gene Aliases

HGNC Name

KDEL endoplasmic reticulum protein retention receptor 1

HGNC Alias Symbols

ERD2.1; ERD2; HDEL

Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
2 papers
NM_006801.3
p.S123P
c.367T>C
2 papers
NM_006801.3
p.T148P
c.442A>C
2 papers
NM_006801.3
p.D193N
c.577G>A
1 paper
NM_006801.3
p.G8R
c.22G>C
1 paper
NM_006801.3
p.L18insFs
c.53_54ins10
1 paper
NM_006801.3
p.L19P
c.56T>C
1 paper
NM_006801.3
p.L21H
c.62T>A
1 paper
NM_006801.3
p.G31Splc
c.91+4A>C
1 paper
NM_006801.3
p.D50N
c.148G>A
1 paper
NM_006801.3
p.L51V
c.151C>G
1 paper
NM_006801.3
p.N54K
c.162C>G
1 paper
NM_006801.3
p.N54K
c.162C>A
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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."