Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.Y88H

REEP1

142 papers

RefSeq Summary

This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neur...

Pfam Domains

TB2_DP1_HVA22aa 19–95UCSCTB2/DP1, HVA22 family

Gene Aliases

HGNC Name

receptor accessory protein 1

HGNC Previous Symbol

C2orf23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371279.1
p.Y88H
c.262T>C
Surrounding Variants
1 paper
NM_001371279.1
p.Y88C
c.263A>G
1 paper
NM_001371279.1
p.L86delFs
c.257_258delGA
1 paper
NM_001164731.2
p.Y61_R62insFs
c.183_184insCT
1 paper
NM_001371279.1
p.S85R
c.255C>G
3 papers
NM_001371279.1
p.G83delFs
c.247delC
1 paper
NM_001371279.1
p.G83R
c.247G>C
1 paper
NM_001371279.1
p.G83fs
c.247_248fs
3 papers
NM_001371279.1
p.P94delFs
c.282delG
1 paper
NM_001371279.1
p.P94delFs
c.281_282delGG
2 papers
NM_001371279.1
p.T95fs
c.283_284fs
1 paper
NM_001164730.2
p.T102T
c.306G>A
5 papers
NM_001371279.1
p.L96P
c.287T>C
NM_001164730.2
p.L103P
c.308T>C
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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."