Varaico: Literature-Extracted Genetic Variants

Gene:REEP2
Variant:p.F62L

REEP2

49 papers

RefSeq Summary

This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the funct...

Pfam Domains

TB2_DP1_HVA22aa 19–95UCSCTB2/DP1, HVA22 family

Gene Aliases

HGNC Name

receptor accessory protein 2

HGNC Previous Symbol

C5orf19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001271803.2
p.F62L
c.184T>C
Surrounding Variants
3 papers
NM_001271803.2
p.F62C
c.185T>G
1 paper
NM_001271803.2
p.F62L
c.186C>A
1 paper
NM_001271803.2
p.F62L
c.186C>G
1 paper
NM_001271803.2
p.P63H
c.188C>A
3 papers
NM_001271803.2
p.Y65N
c.193T>A
4 papers
NM_001271803.2
p.F72Y
c.215T>A
1 paper
NM_001271803.2
p.V73M
c.217G>A
1 paper
NM_001271803.2
p.L77L
c.231G>T
1 paper
NM_001271803.2
p.G125D
c.374G>A
2 papers
NM_001271803.2
p.A137T
c.409G>A
1 paper
NM_001271803.2
p.Q141P
c.422A>C
1 paper
NM_001271803.2
p.L144V
c.430C>G
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