Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.K36*

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.K36*
c.106A>T
Surrounding Variants
1 paper
NM_017697.4
p.W35*
c.105G>A
1 paper
NM_017697.4
p.V38V
c.114G>A
1 paper
NM_017697.4
p.D39A
c.116A>C
1 paper
NM_017697.4
p.L40L
c.118C>T
1 paper
NM_017697.4
p.K28del1
c.82_83delAAG
1 paper
NM_017697.4
p.K44_V45Splc
c.132+2T>C
1 paper
NM_017697.4
p.G24S
c.70G>A
1 paper
NM_017697.4
p.L23L
c.69A>G
2 papers
NM_017697.4
p.A18T
c.52G>A
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
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