Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.K123fs

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.K123fs
c.367_368fs
Surrounding Variants
5 papers
NM_001371279.1
p.G122G
c.366G>T
1 paper
NM_001371279.1
p.G122fs
c.364_365fs
1 paper
NM_001371279.1
p.R124Q
c.371G>A
1 paper
NM_001371279.1
p.G125S
c.373G>A
1 paper
NM_001371279.1
p.H120Y
c.358C>T
1 paper
NM_001371279.1
p.L126*
c.377T>A
1 paper
NM_001371279.1
p.V119A
c.356T>C
1 paper
NM_001371279.1
p.V119M
c.355G>A
1 paper
NM_001371279.1
p.N127D
c.379A>G
1 paper
NM_001371279.1
p.N127S
c.380A>G
2 papers
NM_001371279.1
p.L118R
c.353T>G
1 paper
NM_001371279.1
p.N127N
c.381C>T
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