Varaico: Literature-Extracted Genetic Variants

Gene:SNRPA
Variant:p.F56L

SNRPA

121 papers

RefSeq Summary

The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded pro...

Pfam Domains

RRM_1aa 12–83UCSCRNA recognition motif
RRM_1aa 210–275UCSCRNA recognition motif

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein polypeptide A

HGNC Alias Symbols

U1A; U1-A; Mud1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_004596.5
p.F56L
c.168T>G
Surrounding Variants
4 papers
NM_004596.5
p.F56L
c.168T>A
6 papers
NM_004596.5
p.F56Y
c.167T>A
4 papers
NM_004596.5
p.F56L
c.166T>C
2 papers
NM_004596.5
p.Q54E
c.160C>G
2 papers
NM_004596.5
p.K60Q
c.178A>C
2 papers
NM_004596.5
p.G53A
c.158G>C
2 papers
NM_004596.5
p.G53V
c.158G>T
1 paper
NM_004596.5
p.M51T
c.152T>C
1 paper
NM_004596.5
p.V62A
c.185T>C
3 papers
NM_004596.5
p.K50Q
c.148A>C
1 paper
NM_004596.5
p.K50E
c.148A>G
1 paper
NM_004596.5
p.A65G
c.194C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."