Varaico: Literature-Extracted Genetic Variants

Gene:REEP2
Variant:p.V36E

REEP2

49 papers

RefSeq Summary

This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the funct...

Pfam Domains

TB2_DP1_HVA22aa 19–95UCSCTB2/DP1, HVA22 family

Gene Aliases

HGNC Name

receptor accessory protein 2

HGNC Previous Symbol

C5orf19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001271803.2
p.V36E
c.107T>A
Surrounding Variants
1 paper
NM_001271803.2
p.M40K
c.119T>A
3 papers
NM_001271803.2
p.M40R
c.119T>G
1 paper
NM_001271803.2
p.W42R
c.124T>A
1 paper
NM_001271803.2
p.W42R
c.124T>C
1 paper
NM_001271803.2
p.T53M
c.158C>T
1 paper
NM_001271803.2
p.L54P
c.161T>C
4 papers
NM_001271803.2
p.Y35_V36Splc
c.105+3G>T
1 paper
NM_001271803.2
p.Y35C
c.104A>G
2 papers
NM_001271803.2
p.V10G
c.29T>G
1 paper
NM_001271803.2
p.V10M
c.28G>A
1 paper
NM_001271803.2
p.I6insFs
c.16dupA
5 papers
NM_001271803.2
p.M1T
c.2T>C
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."