Varaico: Literature-Extracted Genetic Variants

Gene:REEP2

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
1–12 of 33 variants
5 papers
NM_001271803.2
p.M1T
c.2T>C
5 papers
NM_001271803.2
p.V36E
c.107T>A
4 papers
NM_001271803.2
p.Y35_V36Splc
c.105+3G>T
4 papers
NM_001271803.2
p.F72Y
c.215T>A
3 papers
NM_001271803.2
p.M40R
c.119T>G
3 papers
NM_001271803.2
p.F62C
c.185T>G
3 papers
NM_001271803.2
p.Y65N
c.193T>A
2 papers
NM_001271803.2
p.V10G
c.29T>G
2 papers
NM_001271803.2
p.A137T
c.409G>A
2 papers
NM_001271803.2
p.T247insFs
c.741dupC
1 paper
NM_001271803.2
p.I6insFs
c.16dupA
1 paper
NM_001271803.2
p.V10M
c.28G>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."