Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.E146G

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.E146G
c.437A>G
Surrounding Variants
1 paper
NM_001371279.1
p.R147I
c.440G>T
1 paper
NM_001371279.1
p.L144*
c.431T>G
1 paper
NM_001371279.1
p.L144*
c.431T>A
1 paper
NM_001371279.1
p.R149Q
c.446G>A
1 paper
NM_001371279.1
p.G142R
c.424G>C
1 paper
NM_001371279.1
p.Q141fs
c.421_422fs
1 paper
NM_001371279.1
p.Q141delFs
c.422delT
1 paper
NM_001371279.1
p.S150_F151delFs
c.448_451del4
1 paper
NM_001371279.1
p.Q141P
c.422A>C
1 paper
NM_001371279.1
p.Q141fs
c.421_422fs
3 papers
NM_001371279.1
p.G140insFs
c.419_420insG
2 papers
NM_001371279.1
p.G140*
c.418G>T
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