Varaico: Literature-Extracted Genetic Variants

Gene:REEP4
Variant:p.R180W

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
3 papers
NM_025232.4
p.R180W
c.538C>T
Surrounding Variants
2 papers
NM_025232.4
p.R180Q
c.539G>A
1 paper
NM_025232.4
p.P170S
c.508C>T
2 papers
NM_025232.4
p.G185Splc
c.553+28T>C
1 paper
NM_025232.4
p.A162V
c.485C>T
1 paper
NM_025232.4
p.I159F
c.475A>T
1 paper
NM_025232.4
p.S158F
c.473C>T
1 paper
NM_025232.4
p.S152A
c.454T>G
5 papers
NM_025232.4
p.R149Q
c.446G>A
1 paper
NM_025232.4
p.G146C
c.436G>T
1 paper
NM_025232.4
p.G146S
c.436G>A
2 papers
NM_025232.4
p.K139_S140Splc
c.418-12T>C
1 paper
NM_025232.4
p.K139_S140Splc
c.418-43A>T
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