Varaico: Literature-Extracted Genetic Variants

Gene:REEP2
Variant:p.T247insFs

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
2 papers
NM_001271803.2
p.T247insFs
c.741dupC
Surrounding Variants
1 paper
NM_001271803.2
p.S248fs
c.742_743fs
1 paper
NM_001271803.2
p.G250R
c.748G>A
1 paper
NM_001271803.2
p.R242Q
c.725G>A
1 paper
NM_001271803.2
p.D252N
c.754G>A
1 paper
NM_001271803.2
p.A228A
c.684G>A
1 paper
NM_001271803.2
p.L165L
c.493C>T
1 paper
NM_001271803.2
p.L144V
c.430C>G
1 paper
NM_001271803.2
p.Q141P
c.422A>C
2 papers
NM_001271803.2
p.A137T
c.409G>A
1 paper
NM_001271803.2
p.G125D
c.374G>A
1 paper
NM_001271803.2
p.L77L
c.231G>T
1 paper
NM_001271803.2
p.V73M
c.217G>A
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."