Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.G176delFs

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
6 papers
NM_001371279.1
p.G176delFs
c.526delC
Surrounding Variants
1 paper
NM_001371279.1
p.R177fs
c.529_530fs
1 paper
NM_001371279.1
p.R177W
c.529C>T
5 papers
NM_001371279.1
p.G176fs
c.526_527fs
1 paper
NM_001164730.2
p.G183_R184insCT
c.547_551ins6
1 paper
NM_001371279.1
p.A178delFs
c.533delG
2 papers
NM_001371279.1
p.S179fs
c.535_536fs
1 paper
NM_001371279.1
p.P173L
c.518C>T
3 papers
NM_001371279.1
p.S179_G180delFs
c.537_540del4
1 paper
NM_001371279.1
p.K181T
c.542A>C
7 papers
NM_001371279.1
p.G169delFs
c.507delG
NM_001164731.2
p.P144delFs
c.431delG
2 papers
NM_001371279.1
p.G183_Q184insCT
c.547_551ins6
2 papers
NM_001371279.1
p.G183S
c.547G>A
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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."