Varaico: Literature-Extracted Genetic Variants

Gene:SNRPE
Variant:p.L74P

SNRPE

31 papers

RefSeq Summary

The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' ...

Pfam Domains

LSMaa 23–89UCSCLSM domain

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein polypeptide E

HGNC Alias Symbol

Sm-E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003094.4
p.L74P
c.221T>C
Surrounding Variants
1 paper
NM_003094.4
p.S70T
c.208T>A
1 paper
NM_003094.4
p.S66C
c.197C>G
1 paper
NM_003094.4
p.H65_K67insFs
c.193_200dup8
1 paper
NM_003094.4
p.D51E
c.153T>A
7 papers
NM_003094.4
p.G45S
c.133G>A
1 paper
NM_003094.4
p.E44_G45insFs
c.132_133insTT
1 paper
NM_003094.4
p.I43I
c.129A>T
1 paper
NM_003094.4
p.R42W
c.124C>T
1 paper
NM_003094.4
p.R30Q
c.89G>A
1 paper
NM_003094.4
p.R23R
c.69A>G
4 papers
NM_003094.4
p.F22S
c.65T>C
2 papers
NM_003094.4
p.I18_N19Splc
c.54+2T>A
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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."