Varaico: Literature-Extracted Genetic Variants

Gene:REEP4
Variant:p.D104D

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
2 papers
NM_025232.4
p.D104D
c.312C>T
Surrounding Variants
1 paper
NM_025232.4
p.Q109fs
c.325_326fs
1 paper
NM_025232.4
p.Q109delFs
c.326delT
1 paper
NM_025232.4
p.K101_E102Splc
c.304-8G>T
1 paper
NM_025232.4
p.L119I
c.355C>A
1 paper
NM_025232.4
p.E116_V118del0
c.346_354del9
1 paper
NM_025232.4
p.R124Q
c.371G>A
1 paper
NM_025232.4
p.I128V
c.382A>G
1 paper
NM_025232.4
p.K101_E102Splc
c.303+137G>C
1 paper
NM_025232.4
p.K139_S140Splc
c.418-43A>T
2 papers
NM_025232.4
p.K139_S140Splc
c.418-12T>C
1 paper
NM_025232.4
p.G146C
c.436G>T
1 paper
NM_025232.4
p.G146S
c.436G>A
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