Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.Y115*

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.Y115*
c.345C>A
Surrounding Variants
4 papers
NM_001371279.1
p.Y115*
c.345C>G
1 paper
NM_001371279.1
p.D116E
c.348T>G
1 paper
NM_001371279.1
p.D116E
c.348T>A
4 papers
NM_001371279.1
p.S114_D116delFs
c.340_347del8
1 paper
NM_001371279.1
p.A117P
c.349G>C
1 paper
NM_001371279.1
p.S114N
c.341G>A
1 paper
NM_001371279.1
p.S114fs
c.340_341fs
2 papers
NM_001371279.1
p.L118R
c.353T>G
17 papers
NM_001371279.1
p.R113*
c.337C>T
1 paper
NM_001371279.1
p.V119M
c.355G>A
1 paper
NM_001371279.1
p.V119A
c.356T>C
1 paper
NM_001371279.1
p.D112Y
c.334G>T
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