Varaico: Literature-Extracted Genetic Variants

Gene:KDELR2
Variant:p.R5W

KDELR2

22 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 2

HGNC Alias Symbols

ELP-1; ERD2.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006854.4
p.R5W
c.13C>T
Surrounding Variants
1 paper
NM_006854.4
p.M1_N2insFs
c.3_4ins4
2 papers
NM_006854.4
p.H12D
c.34C>G
1 paper
NM_006854.4
p.G31fs
c.91_92fs
1 paper
NM_006854.4
p.S36R
c.106A>C
1 paper
NM_006854.4
p.S36R
c.108C>G
1 paper
NM_006854.4
p.S36R
c.108C>A
1 paper
NM_006854.4
p.R47C
c.139C>T
1 paper
NM_006854.4
p.L51delFs
c.152_153delAA
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."