Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.I70R

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.I70R
c.209T>G
Surrounding Variants
1 paper
NM_001371279.1
p.F72Y
c.215T>A
1 paper
NM_001371279.1
p.L68Q
c.203T>A
1 paper
NM_001371279.1
p.L68delins
c.202_203delinsTA
1 paper
NM_001371279.1
p.L68L
c.202C>T
1 paper
NM_001371279.1
p.E67D
c.201A>T
3 papers
NM_001371279.1
p.Y66*
c.198T>G
3 papers
NM_001371279.1
p.Y66*
c.198T>A
1 paper
NM_001164731.2
p.W34_A47delFs
c.102_139del38
3 papers
NM_001371279.1
p.A74delFs
c.222delG
3 papers
NM_001371279.1
p.W75*
c.224G>A
1 paper
NM_001371279.1
p.Y65C
c.194A>G
2 papers
NM_001371279.1
p.Y65delFs
c.193delA
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