Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.W234*

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.W234*
c.702G>A
Surrounding Variants
1 paper
NM_017697.4
p.W234*
c.701G>A
1 paper
NM_017697.4
p.Q235delFs
c.705delG
1 paper
NM_017697.4
p.P233delFs
c.698delC
1 paper
NM_017697.4
p.S237*
c.710C>A
1 paper
NM_017697.4
p.S237*
c.710C>G
1 paper
NM_017697.4
p.R230*
c.688C>T
1 paper
NM_017697.4
p.A242T
c.724G>A
1 paper
NM_017697.4
p.F244L
c.730T>C
1 paper
NM_017697.4
p.F244L
c.732C>A
1 paper
NM_017697.4
p.F244L
c.732C>G
1 paper
NM_017697.4
p.G247*
c.739G>T
2 papers
NM_017697.4
p.D222fs
c.664_665fs
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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."