Varaico: Literature-Extracted Genetic Variants

Gene:SNRPB2
Variant:p.D39delFs

SNRPB2

19 papers

RefSeq Summary

The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Au...

Pfam Domains

RRM_1aa 9–80UCSCRNA recognition motif
RRM_1aa 153–219UCSCRNA recognition motif

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein polypeptide B2

HGNC Alias Symbol

U2B''

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003092.5
p.D39delFs
c.116_117delAC
Surrounding Variants
1 paper
NM_003092.5
p.H36H
c.108T>C
1 paper
NM_003092.5
p.S62C
c.185C>G
1 paper
NM_003092.5
p.K93R
c.278A>G
1 paper
NM_003092.5
p.K104fs
c.310_311fs
2 papers
NM_003092.5
p.K107_K109delFs
c.321_325del5
1 paper
NM_003092.5
p.K105N
c.315A>T
1 paper
NM_003092.5
p.K108fs
c.322_323fs
1 paper
NM_003092.5
p.K111T
c.332A>C
1 paper
NM_003092.5
p.T116_A117delFs
c.346_350del5
1 paper
NM_003092.5
p.T116_A117del2
c.346_350del6
1 paper
NM_003092.5
p.S138*
c.413C>A
1 paper
NM_003092.5
p.S138*
c.413C>G
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