Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.E479D

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.E479D
c.1437A>T
Surrounding Variants
1 paper
NM_024939.3
p.E479D
c.1437A>C
2 papers
NM_024939.3
p.T475T
c.1425G>A
1 paper
NM_024939.3
p.R468delFs
c.1404delG
1 paper
NM_024939.3
p.L469F
c.1405C>T
1 paper
NM_024939.3
p.R468C
c.1402C>T
1 paper
NM_024939.3
p.V497I
c.1489G>A
1 paper
NM_024939.3
p.Q504_G505Splc
c.1512+6G>A
2 papers
NM_024939.3
p.R437H
c.1310G>A
1 paper
NM_024939.3
p.R506W
c.1516C>T
3 papers
NM_024939.3
p.S508L
c.1523C>T
2 papers
NM_024939.3
p.A518V
c.1553C>T
3 papers
NM_024939.3
p.R520*
c.1558C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."