Varaico: Literature-Extracted Genetic Variants

Gene:ESRP1
Variant:p.K391_L393delFs

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.K391_L393delFs
c.1172_1179del8
Surrounding Variants
1 paper
NM_017697.4
p.K389N
c.1167G>C
1 paper
NM_017697.4
p.K389N
c.1167G>T
1 paper
NM_017697.4
p.A386A
c.1158G>A
1 paper
NM_017697.4
p.Y398*
c.1194C>A
1 paper
NM_017697.4
p.Y398*
c.1194C>G
1 paper
NM_017697.4
p.E400A
c.1199A>C
1 paper
NM_017697.4
p.Q410L
c.1229A>T
1 paper
NM_017697.4
p.G355fs
c.1063_1064fs
1 paper
NM_017697.4
p.C350C
c.1050C>T
1 paper
NM_017697.4
p.C350Y
c.1049G>A
1 paper
NM_017697.4
p.P351delFs
c.1052delC
1 paper
NM_017697.4
p.A337T
c.1009G>A
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