Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.N512delFs

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
4 papers
NM_017697.4
p.N512delFs
c.1535delA
Surrounding Variants
1 paper
NM_017697.4
p.H509Q
c.1527T>A
1 paper
NM_017697.4
p.H509Q
c.1527T>G
1 paper
NM_017697.4
p.K510*
c.1528A>T
1 paper
NM_017697.4
p.K511fs
c.1531_1532fs
2 papers
NM_017697.4
p.N512fs
c.1534_1535fs
4 papers
NM_017697.4
p.N512fs
c.1534_1535fs
1 paper
NM_017697.4
p.N512T
c.1535A>C
1 paper
NM_017697.4
p.V520V
c.1560C>G
1 paper
NM_017697.4
p.E526_N529delFs
c.1577_1587del11
1 paper
NM_017697.4
p.P487P
c.1461A>G
1 paper
NM_017697.4
p.G534W
c.1600G>T
2 papers
NM_017697.4
p.R539*
c.1615C>T
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