Varaico: Literature-Extracted Genetic Variants

Gene:REEP4
Variant:p.R221C

REEP4

31 papers

Pfam Domains

TB2_DP1_HVA22aa 19–95UCSCTB2/DP1, HVA22 family

Gene Aliases

HGNC Name

receptor accessory protein 4

HGNC Previous Symbol

C8orf20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_025232.4
p.R221C
c.661C>T
Surrounding Variants
1 paper
NM_025232.4
p.R221H
c.662G>A
1 paper
NM_025232.4
p.R226C
c.676C>T
1 paper
NM_025232.4
p.R226H
c.677G>A
1 paper
NM_025232.4
p.A212P
c.634G>C
1 paper
NM_025232.4
p.D195N
c.583G>A
3 papers
NM_025232.4
p.R245Q
c.734G>A
1 paper
NM_001316964.2
p.E195K
c.583G>A
1 paper
NM_025232.4
p.T250N
c.749C>A
1 paper
NM_025232.4
p.V255_D256ins4
c.765_766ins12
1 paper
NM_025232.4
p.V255_D256insFs
c.765_766ins4
2 papers
NM_025232.4
p.G185Splc
c.553+28T>C
1 paper
NM_001316964.2
p.A212P
c.634G>C
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