Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.G176delFs

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_001164730.2
p.G176delFs
c.526delC
Surrounding Variants
1 paper
NM_001164730.2
p.G176fs
c.526_527fs
1 paper
NM_001164730.2
p.P177S
c.529C>T
4 papers
NM_001371279.1
p.P170fs
c.508_509fs
2 papers
NM_001371279.1
p.P171fs
c.511_512fs
7 papers
NM_001371279.1
p.G169delFs
c.507delG
NM_001164731.2
p.P144delFs
c.431delG
1 paper
NM_001164731.2
p.P140insFs
c.419_420insG
1 paper
NM_001371279.1
p.P173L
c.518C>T
1 paper
NM_001164730.2
p.G183_R184insCT
c.547_551ins6
1 paper
NM_001164730.2
p.D169delFs
c.507delG
5 papers
NM_001371279.1
p.G176fs
c.526_527fs
1 paper
NM_001371279.1
p.R177fs
c.529_530fs
1 paper
NM_001371279.1
p.R177W
c.529C>T
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