Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.R437H

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
2 papers
NM_024939.3
p.R437H
c.1310G>A
Surrounding Variants
1 paper
NM_024939.3
p.R468C
c.1402C>T
1 paper
NM_024939.3
p.L469F
c.1405C>T
1 paper
NM_024939.3
p.R468delFs
c.1404delG
2 papers
NM_024939.3
p.T475T
c.1425G>A
1 paper
NM_024939.3
p.E479D
c.1437A>T
1 paper
NM_024939.3
p.E479D
c.1437A>C
1 paper
NM_024939.3
p.V497I
c.1489G>A
1 paper
NM_024939.3
p.Q504_G505Splc
c.1512+6G>A
1 paper
NM_024939.3
p.L398V
c.1192C>G
1 paper
NM_024939.3
p.A397T
c.1189G>A
1 paper
NM_024939.3
p.R385C
c.1153C>T
1 paper
NM_024939.3
p.L382F
c.1144C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."