Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.R86L

ESRP1

87 papers

RefSeq Summary

ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009].

Pfam Domains

RRM_11aa 227–317UCSCRRM domain
RRM_11aa 328–418UCSCRRM domain
RRM_11aa 447–541UCSCRRM domain

Gene Aliases

HGNC Name

epithelial splicing regulatory protein 1

HGNC Previous Symbol

RBM35A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017697.4
p.R86L
c.257G>T
Surrounding Variants
2 papers
NM_017697.4
p.S79S
c.237G>A
1 paper
NM_017697.4
p.E73K
c.217G>A
1 paper
NM_017697.4
p.E67D
c.201A>C
1 paper
NM_017697.4
p.E67D
c.201A>T
1 paper
NM_017697.4
p.D56H
c.166G>C
1 paper
NM_017697.4
p.D56Y
c.166G>T
1 paper
NM_017697.4
p.P55P
c.165G>A
1 paper
NM_017697.4
p.P55P
c.165G>C
1 paper
NM_017697.4
p.E50*
c.148G>T
1 paper
NM_017697.4
p.Q47*
c.139C>T
1 paper
NM_017697.4
p.K44_V45Splc
c.132+2T>C
1 paper
NM_017697.4
p.L40L
c.118C>T
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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."