Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.R160delFs

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
5 papers
NM_001371279.1
p.R160delFs
c.478delT
Surrounding Variants
2 papers
NM_001371279.1
p.R160fs
c.478_479fs
1 paper
NM_001371279.1
p.G161*
c.481G>T
1 paper
NM_001371279.1
p.T158fs
c.472_473fs
1 paper
NM_001371279.1
p.T158insFs
c.472_473insA
2 papers
NM_001371279.1
p.T157delFs
c.471delG
1 paper
NM_001164730.2
p.D169delFs
c.507delG
1 paper
NM_001371279.1
p.D155_L156del2
c.463_467del6
1 paper
NM_001371279.1
p.L156delFs
c.467delA
1 paper
NM_001164730.2
p.M160delFs
c.478delT
1 paper
NM_001164731.2
p.P140insFs
c.419_420insG
1 paper
NM_001371279.1
p.S150_F151delFs
c.448_451del4
1 paper
NM_001164730.2
p.G176fs
c.526_527fs
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