Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.S23F

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
7 papers
NM_001371279.1
p.S23F
c.68C>T
Surrounding Variants
1 paper
NM_001371279.1
p.Y21fs
c.61_62fs
2 papers
NM_001371279.1
p.K25E
c.73A>G
4 papers
NM_001371279.1
p.A20delFs
c.60delC
1 paper
NM_001371279.1
p.Y21fs
c.61_62fs
2 papers
NM_001371279.1
p.K25N
c.75G>T
1 paper
NM_001371279.1
p.K25N
c.75G>C
2 papers
NM_001371279.1
p.A26P
c.76G>C
16 papers
NM_001371279.1
p.A20E
c.59C>A
2 papers
NM_001164730.2
p.A27P
c.79G>C
NM_001371279.1
p.A20P
c.58G>C
1 paper
NM_001371279.1
p.P19P
c.57T>C
1 paper
NM_001371279.1
p.P19P
c.57T>A
8 papers
NM_001371279.1
p.P19L
c.56C>T
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