Varaico: Literature-Extracted Genetic Variants

Gene:REPS1
Variant:p.L194L

REPS1

41 papers

Pfam Domains

EHaa 6–109UCSCEH domain
EHaa 281–378UCSCEH domain

Gene Aliases

HGNC Name

RALBP1 associated Eps domain containing 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001286611.2
p.L194L
c.582C>T
Surrounding Variants
1 paper
NM_001286611.2
p.G210S
c.628G>A
1 paper
NM_001286611.2
p.Q168delFs
c.504delC
1 paper
NM_001286611.2
p.T148M
c.443C>T
1 paper
NM_001286611.2
p.S143F
c.428C>T
1 paper
NM_001286611.2
p.V129A
c.386T>C
4 papers
NM_001286611.2
p.A113E
c.338C>A
1 paper
NM_001286611.2
p.G210S
c.628G>A
1 paper
NM_001286611.2
p.Q227E
c.679C>G
1 paper
NM_001286611.2
p.H246L
c.737A>T
1 paper
NM_001286611.2
p.R269C
c.805C>T
1 paper
NM_001286611.2
p.Y289F
c.866A>T
1 paper
NM_001286611.2
p.K317_W327del0
c.951_980del30
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