Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.A18T

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.A18T
c.52G>A
Surrounding Variants
1 paper
NM_017697.4
p.G17E
c.50G>A
1 paper
NM_017697.4
p.A16V
c.47C>T
1 paper
NM_017697.4
p.I14fs
c.40_41fs
1 paper
NM_017697.4
p.G13delFs
c.39delG
1 paper
NM_017697.4
p.L23L
c.69A>G
1 paper
NM_017697.4
p.G24S
c.70G>A
1 paper
NM_017697.4
p.K28del1
c.82_83delAAG
1 paper
NM_017697.4
p.L8insFs
c.22dupT
1 paper
NM_017697.4
p.A3V
c.8C>T
1 paper
NM_017697.4
p.T2T
c.6G>A
1 paper
NM_017697.4
p.M1V
c.1A>G
1 paper
NM_017697.4
p.W35*
c.105G>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."