Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.K534R

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.K534R
c.1601A>G
Surrounding Variants
1 paper
NM_024939.3
p.K531R
c.1592A>G
1 paper
NM_024939.3
p.Y537S
c.1610A>C
1 paper
NM_024939.3
p.K530R
c.1589A>G
3 papers
NM_024939.3
p.E547del1
c.1639_1640delCTC
3 papers
NM_024939.3
p.R520*
c.1558C>T
2 papers
NM_024939.3
p.A518V
c.1553C>T
3 papers
NM_024939.3
p.S508L
c.1523C>T
1 paper
NM_024939.3
p.M562T
c.1685T>C
1 paper
NM_024939.3
p.R506W
c.1516C>T
1 paper
NM_024939.3
p.K568R
c.1703A>G
1 paper
NM_024939.3
p.Q504_G505Splc
c.1512+6G>A
1 paper
NM_024939.3
p.V497I
c.1489G>A
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