Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.A20E

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
16 papers
NM_001371279.1
p.A20E
c.59C>A
Surrounding Variants
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
4 papers
NM_001371279.1
p.A20delFs
c.60delC
1 paper
NM_001371279.1
p.Y21fs
c.61_62fs
8 papers
NM_001371279.1
p.P19L
c.56C>T
10 papers
NM_001371279.1
p.P19R
c.56C>G
1 paper
NM_001371279.1
p.Y21fs
c.61_62fs
2 papers
NM_001371279.1
p.P19T
c.55C>A
1 paper
NM_001371279.1
p.Y18C
c.53A>G
1 paper
NM_001371279.1
p.L17delFs
c.51delA
3 papers
NM_001371279.1
p.L17delFs
c.49delG
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