Varaico: Literature-Extracted Genetic Variants

Gene:SNRPD2
Variant:p.R94C

SNRPD2

16 papers

RefSeq Summary

The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple trans...

Pfam Domains

LSMaa 33–111UCSCLSM domain

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein D2 polypeptide

HGNC Alias Symbol

Sm-D2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384647.1
p.R94C
c.280C>T
Surrounding Variants
1 paper
NM_001384647.1
p.G83G
c.249C>T
1 paper
NM_001384647.1
p.S105S
c.315A>T
1 paper
NM_001384647.1
p.E20G
c.59A>G
1 paper
NM_001384647.1
p.K18E
c.52A>G
1 paper
NM_001384647.1
p.K8R
c.23A>G
1 paper
NM_001384647.1
p.K6R
c.17A>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."