Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.F222_I228delFs

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.F222_I228delFs
c.665_683del19
Surrounding Variants
1 paper
NM_024939.3
p.K231R
c.692A>G
1 paper
NM_024939.3
p.E233*
c.697G>T
1 paper
NM_024939.3
p.E233K
c.697G>A
1 paper
NM_024939.3
p.K224*
c.670A>T
1 paper
NM_024939.3
p.G235delFs
c.705delC
1 paper
NM_024939.3
p.K239R
c.716A>G
1 paper
NM_024939.3
p.V243G
c.728T>G
3 papers
NM_024939.3
p.R250Q
c.749G>A
1 paper
NM_024939.3
p.A251V
c.752C>T
1 paper
NM_024939.3
p.K268R
c.803A>G
1 paper
NM_024939.3
p.R274Splc
c.821+7G>C
1 paper
NM_024939.3
p.R274S
c.822G>T
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