Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.L382F

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.L382F
c.1144C>T
Surrounding Variants
1 paper
NM_024939.3
p.E379E
c.1137G>A
1 paper
NM_024939.3
p.R385C
c.1153C>T
3 papers
NM_024939.3
p.C372S
c.1115G>C
3 papers
NM_024939.3
p.C372S
c.1114T>A
1 paper
NM_024939.3
p.A397T
c.1189G>A
1 paper
NM_024939.3
p.L398V
c.1192C>G
1 paper
NM_024939.3
p.V364V
c.1092G>A
3 papers
NM_024939.3
p.R353Q
c.1058G>A
1 paper
NM_024939.3
p.R351L
c.1052G>T
1 paper
NM_024939.3
p.E337K
c.1009G>A
2 papers
NM_024939.3
p.R437H
c.1310G>A
1 paper
NM_024939.3
p.R468C
c.1402C>T
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