Varaico: Literature-Extracted Genetic Variants

Gene:SNRNP35

SNRNP35

16 papers

RefSeq Summary

The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, w...

Pfam Domains

RRM_1aa 53–122UCSCRNA recognition motif

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein U11/U12 subunit 35

HGNC Alias Symbol

U1SNRNPBP

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_022717.4
p.R79W
c.235C>T
1 paper
NM_022717.4
p.K63M
c.188A>T
1 paper
NM_022717.4
p.K68M
c.203A>T
1 paper
NM_022717.4
p.Y99Y
c.297C>T
1 paper
NM_022717.4
p.G146fs
c.436_437fs
1 paper
NM_022717.4
p.G146E
c.437G>A
1 paper
NM_022717.4
p.K148delFs
c.443delA
1 paper
NM_022717.4
p.L153delFs
c.458delT
1 paper
NM_022717.4
p.H203R
c.608A>G
1 paper
NM_022717.4
p.W225*
c.674G>A
1 paper
NM_022717.4
p.W225*
c.675G>A
1 paper
NM_022717.4
p.E240G
c.719A>G
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