Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.Y208C

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.Y208C
c.623A>G
Surrounding Variants
1 paper
NM_017697.4
p.K209fs
c.625_626fs
1 paper
NM_017697.4
p.K209N
c.627G>C
1 paper
NM_017697.4
p.K209N
c.627G>T
1 paper
NM_017697.4
p.V206L
c.616G>C
1 paper
NM_017697.4
p.V206L
c.616G>T
1 paper
NM_017697.4
p.E204fs
c.610_611fs
1 paper
NM_017697.4
p.G213*
c.637G>T
2 papers
NM_017697.4
p.E194A
c.581A>C
1 paper
NM_017697.4
p.E182A
c.545A>C
1 paper
NM_017697.4
p.R175*
c.523C>T
1 paper
NM_017697.4
p.V173G
c.518T>G
2 papers
NM_017697.4
p.D222_R228delFs
c.665_683del19
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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."