Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.S85R

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.S85R
c.255C>G
Surrounding Variants
1 paper
NM_001371279.1
p.L86delFs
c.257_258delGA
3 papers
NM_001371279.1
p.G83delFs
c.247delC
1 paper
NM_001371279.1
p.Y88H
c.262T>C
1 paper
NM_001371279.1
p.G83R
c.247G>C
1 paper
NM_001371279.1
p.G83fs
c.247_248fs
1 paper
NM_001371279.1
p.Y88C
c.263A>G
1 paper
NM_001164731.2
p.Y61_R62insFs
c.183_184insCT
2 papers
NM_001371279.1
p.S78Y
c.233C>A
3 papers
NM_001371279.1
p.L77P
c.230T>C
1 paper
NM_001371279.1
p.L76fs
c.226_227fs
3 papers
NM_001371279.1
p.P94delFs
c.282delG
1 paper
NM_001371279.1
p.P94delFs
c.281_282delGG
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