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
4 papers
NM_001371279.1
p.Y35_V36Splc
c.105+6T>C
Surrounding Variants
1 paper
NM_001371279.1
p.Y35_V36Splc
c.105+4A>G
3 papers
NM_001371279.1
p.Y35delFs
c.104_105delAT
2 papers
NM_001371279.1
p.Y35fs
c.103_104fs
2 papers
NM_001371279.1
p.Y35N
c.103T>A
1 paper
NM_001371279.1
p.E34_Y35insE
c.100_104ins3
1 paper
NM_001371279.1
p.D31fs
c.91_92fs
1 paper
NM_001371279.1
p.K30fs
c.88_89fs
2 papers
NM_001371279.1
p.S29_K30insFs
c.87_88insA
2 papers
NM_001371279.1
p.K30delFs
c.89delT
1 paper
NM_001371279.1
p.V27_K28insFs
c.81_82insC
2 papers
NM_001371279.1
p.A26P
c.76G>C
2 papers
NM_001371279.1
p.K25N
c.75G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."