Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.K101K

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.K101K
c.303G>A
Surrounding Variants
2 papers
NM_001371279.1
p.K101fs
c.301_302fs
2 papers
NM_001164730.2
p.K108_E109Splc
c.324+1G>A
NM_001371279.1
p.K101_E102Splc
c.303+1G>A
3 papers
NM_001371279.1
p.K101_E102Splc
c.303+2T>C
3 papers
NM_001371279.1
p.K101_E102Splc
c.303+2T>A
1 paper
NM_001371279.1
p.S97P
c.289T>C
5 papers
NM_001371279.1
p.L96P
c.287T>C
NM_001164730.2
p.L103P
c.308T>C
2 papers
NM_001371279.1
p.T95fs
c.283_284fs
1 paper
NM_001164730.2
p.T102T
c.306G>A
3 papers
NM_001371279.1
p.P94delFs
c.282delG
1 paper
NM_001371279.1
p.P94delFs
c.281_282delGG
1 paper
NM_001164731.2
p.Y61_R62insFs
c.183_184insCT
1 paper
NM_001371279.1
p.Y88C
c.263A>G
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