Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.L107P

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
7 papers
NM_001371279.1
p.L107P
c.320T>C
Surrounding Variants
2 papers
NM_001371279.1
p.D104_D105del2
c.310_314del6
1 paper
NM_001164730.2
p.V115V
c.345C>A
1 paper
NM_001371279.1
p.D104insFs
c.311dupA
1 paper
NM_001371279.1
p.A110E
c.329C>A
1 paper
NM_001371279.1
p.I103insFs
c.308_309insA
1 paper
NM_001371279.1
p.D112Y
c.334G>T
17 papers
NM_001371279.1
p.R113*
c.337C>T
5 papers
NM_001371279.1
p.K101_E102Splc
c.304-2A>G
1 paper
NM_001371279.1
p.K101_E102Splc
c.304-2A>C
1 paper
NM_001371279.1
p.S114fs
c.340_341fs
1 paper
NM_001371279.1
p.S114N
c.341G>A
4 papers
NM_001371279.1
p.Y115*
c.345C>G
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