Varaico: Literature-Extracted Genetic Variants

Gene:REEP1

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
1–12 of 236 variants
17 papers
NM_001371279.1
p.R113*
c.337C>T
16 papers
NM_001371279.1
p.A20E
c.59C>A
10 papers
NM_001371279.1
p.P19R
c.56C>G
9 papers
NM_001371279.1
p.W42R
c.124T>C
9 papers
NM_001371279.1
p.W42R
c.124T>A
9 papers
NM_001371279.1
p.D56N
c.166G>A
8 papers
NM_001371279.1
p.P19L
c.56C>T
8 papers
NM_001371279.1
p.T55K
c.164C>A
7 papers
NM_001371279.1
p.S23F
c.68C>T
7 papers
NM_001371279.1
p.K101K
c.303G>A
7 papers
NM_001371279.1
p.L107P
c.320T>C
6 papers
NM_001371279.1
p.G169delFs
c.507delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."