Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.T639P

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.T639P
c.1915A>C
Surrounding Variants
1 paper
NM_024939.3
p.S660F
c.1979C>T
3 papers
NM_024939.3
p.L665W
c.1994T>G
3 papers
NM_024939.3
p.R667C
c.1999C>T
1 paper
NM_024939.3
p.K678R
c.2033A>G
1 paper
NM_024939.3
p.D693N
c.2077G>A
1 paper
NM_024939.3
p.V715L
c.2143G>T
1 paper
NM_024939.3
p.S633fs
c.1897_1898fs
1 paper
NM_024939.3
p.P632L
c.1895C>T
1 paper
NM_024939.3
p.N626D
c.1876A>G
1 paper
NM_024939.3
p.A592T
c.1774G>A
1 paper
NM_024939.3
p.K568R
c.1703A>G
1 paper
NM_024939.3
p.M562T
c.1685T>C
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