Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.L59H

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
1 paper
NM_001371279.1
p.L59H
c.176T>A
Surrounding Variants
2 papers
NM_001371279.1
p.L59P
c.176T>C
1 paper
NM_001371279.1
p.F58S
c.173T>C
2 papers
NM_001371279.1
p.F58I
c.172T>A
1 paper
NM_001371279.1
p.I57S
c.170T>G
2 papers
NM_001371279.1
p.W61Splc
c.182+1G>T
1 paper
NM_001371279.1
p.I57V
c.169A>G
9 papers
NM_001371279.1
p.D56N
c.166G>A
1 paper
NM_001371279.1
p.T55I
c.164C>T
8 papers
NM_001371279.1
p.T55K
c.164C>A
1 paper
NM_001164730.2
p.F61_T62insFs
c.183_184insCT
1 paper
NM_001371279.1
p.W61Splc
c.182+8C>G
1 paper
NM_001371279.1
p.E52delFs
c.155_156delCT
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