Varaico: Literature-Extracted Genetic Variants

Gene:SNRPD3
Variant:p.G96V

SNRPD3

24 papers

RefSeq Summary

This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [...

Pfam Domains

LSMaa 8–73UCSCLSM domain

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein D3 polypeptide

HGNC Alias Symbols

SMD3; Sm-D3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004175.5
p.G96V
c.287G>T
Surrounding Variants
1 paper
NM_004175.5
p.A100T
c.298G>A
1 paper
NM_004175.5
p.A100D
c.299C>A
1 paper
NM_004175.5
p.A101A
c.303T>C
1 paper
NM_004175.5
p.L83I
c.247T>A
1 paper
NM_004175.5
p.V48delFs
c.144delC
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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."