Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.Y35_V36Splc

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
3 papers
NM_001371279.1
p.Y35_V36Splc
c.106-4A>G
Surrounding Variants
2 papers
NM_001371279.1
p.V36fs
c.106_107fs
2 papers
NM_001371279.1
p.V36D
c.107T>A
4 papers
NM_001371279.1
p.V36delFs
c.106delC
2 papers
NM_001371279.1
p.K37delFs
c.110delT
1 paper
NM_001371279.1
p.M40R
c.119T>G
9 papers
NM_001371279.1
p.W42R
c.124T>C
9 papers
NM_001371279.1
p.W42R
c.124T>A
3 papers
NM_001371279.1
p.W42*
c.125G>A
NM_001164730.2
p.W49*
c.146G>A
3 papers
NM_001371279.1
p.W42*
c.126G>A
NM_001164730.2
p.W49*
c.147G>A
1 paper
NM_001371279.1
p.I44K
c.131T>A
1 paper
NM_001371279.1
p.F45C
c.134T>G
1 paper
NM_001371279.1
p.E52D
c.156G>C
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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."