Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.K287R

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
2 papers
NM_017697.4
p.K287R
c.860A>G
Surrounding Variants
1 paper
NM_017697.4
p.H288Q
c.864T>A
1 paper
NM_017697.4
p.H288Q
c.864T>G
1 paper
NM_017697.4
p.R293fs
c.877_878fs
1 paper
NM_017697.4
p.D280E
c.840C>A
1 paper
NM_017697.4
p.D280E
c.840C>G
1 paper
NM_017697.4
p.Y294C
c.881A>G
1 paper
NM_017697.4
p.E277_H278delFs
c.831_832delGC
1 paper
NM_017697.4
p.V274A
c.821T>C
1 paper
NM_017697.4
p.R272W
c.814A>T
1 paper
NM_017697.4
p.R264*
c.790C>T
3 papers
NM_017697.4
p.L259V
c.775C>G
1 paper
NM_017697.4
p.C258fs
c.772_773fs
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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."