Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.V107A

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_001164731.2
p.V107A
c.320T>C
Surrounding Variants
1 paper
NM_001371279.1
p.V134M
c.400G>A
1 paper
NM_001164730.2
p.A140insFs
c.419_420insG
1 paper
NM_001371279.1
p.A136A
c.408T>A
1 paper
NM_001371279.1
p.T131I
c.392C>T
1 paper
NM_001371279.1
p.V134_A137ins1
c.401_409dup9
1 paper
NM_001371279.1
p.T131A
c.391A>G
1 paper
NM_001164730.2
p.K146R
c.437A>G
1 paper
NM_001371279.1
p.K139fs
c.415_416fs
5 papers
NM_001371279.1
p.K139_G140Splc
c.417+1G>T
5 papers
NM_001371279.1
p.K139_G140Splc
c.417+1G>A
1 paper
NM_001371279.1
p.N127N
c.381C>T
1 paper
NM_001371279.1
p.N127S
c.380A>G
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