Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.E95*

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.E95*
c.283G>T
Surrounding Variants
1 paper
NM_017697.4
p.E95V
c.284A>T
1 paper
NM_017697.4
p.L96M
c.286C>A
1 paper
NM_017697.4
p.G99R
c.295G>A
1 paper
NM_017697.4
p.G99R
c.295G>C
1 paper
NM_017697.4
p.G99E
c.296G>A
2 papers
NM_017697.4
p.Q90R
c.269A>G
1 paper
NM_017697.4
p.L106V
c.316C>G
1 paper
NM_017697.4
p.S123P
c.367T>C
1 paper
NM_017697.4
p.S123C
c.368C>G
1 paper
NM_017697.4
p.K125_N126Splc
c.375+6A>C
1 paper
NM_017697.4
p.R86L
c.257G>T
2 papers
NM_017697.4
p.S79S
c.237G>A
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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."