Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.L92Q

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.L92Q
c.275T>A
Surrounding Variants
1 paper
NM_024939.3
p.D95V
c.284A>T
2 papers
NM_024939.3
p.E88Q
c.262G>C
1 paper
NM_024939.3
p.S96_D104del9
c.286_311del27
1 paper
NM_024939.3
p.E78insFs
c.232_233insG
1 paper
NM_024939.3
p.V67L
c.199G>T
1 paper
NM_024939.3
p.V67L
c.199G>C
1 paper
NM_024939.3
p.V32_G35del0
c.96_104del9
1 paper
NM_024939.3
p.V32D
c.95T>A
1 paper
NM_024939.3
p.L30M
c.88C>A
1 paper
NM_024939.3
p.P25P
c.75C>G
1 paper
NM_024939.3
p.G12V
c.35G>T
1 paper
NM_024939.3
p.G12A
c.35G>C
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