Varaico: Literature-Extracted Genetic Variants

Gene:REPS1

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
1–12 of 45 variants
4 papers
NM_001286611.2
p.A113E
c.338C>A
3 papers
NM_001286611.2
p.V78L
c.232G>C
1 paper
NM_001286611.2
p.I23T
c.68T>C
1 paper
NM_001286611.2
p.S25G
c.73A>G
1 paper
NM_001286611.2
p.G65R
c.193G>C
1 paper
NM_001286611.2
p.G65R
c.193G>A
1 paper
NM_001286611.2
p.Q68_A72delFs
c.204_214del11
1 paper
NM_001286611.2
p.S81Y
c.242C>A
1 paper
NM_001286611.2
p.V129A
c.386T>C
1 paper
NM_001286611.2
p.S143F
c.428C>T
1 paper
NM_001286611.2
p.T148M
c.443C>T
1 paper
NM_001286611.2
p.Q168delFs
c.504delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."