Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.L281I

ESRP2

70 papers

RefSeq Summary

ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009].

Pfam Domains

RRM_11aa 259–349UCSCRRM domain
RRM_11aa 360–450UCSCRRM domain
RRM_11aa 477–571UCSCRRM domain

Gene Aliases

HGNC Name

epithelial splicing regulatory protein 2

HGNC Previous Symbol

RBM35B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024939.3
p.L281I
c.841C>A
Surrounding Variants
2 papers
NM_024939.3
p.R286H
c.857G>A
1 paper
NM_024939.3
p.R274S
c.822G>T
1 paper
NM_024939.3
p.R274S
c.822G>C
1 paper
NM_024939.3
p.I293V
c.877A>G
1 paper
NM_024939.3
p.Q306*
c.916C>T
1 paper
NM_024939.3
p.R274Splc
c.821+7G>C
4 papers
NM_024939.3
p.R315H
c.944G>A
1 paper
NM_024939.3
p.E318K
c.952G>A
1 paper
NM_024939.3
p.K268R
c.803A>G
1 paper
NM_024939.3
p.A251V
c.752C>T
3 papers
NM_024939.3
p.R250Q
c.749G>A
1 paper
NM_024939.3
p.V243G
c.728T>G
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