Varaico: Literature-Extracted Genetic Variants

Gene:SNRPD1

SNRPD1

11 papers

RefSeq Summary

This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP...

Pfam Domains

LSMaa 5–70UCSCLSM domain

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein D1 polypeptide

HGNC Alias Symbols

HsT2456; Sm-D1

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_006938.4
p.T16I
c.47C>T
1 paper
NM_006938.4
p.Q24H
c.72G>C
1 paper
NM_006938.4
p.G31Splc
c.92-16T>C
1 paper
NM_006938.4
p.K44I
c.131A>T
1 paper
NM_006938.4
p.L58_S59ins2
c.174_175ins6
1 paper
NM_006938.4
p.Y67H
c.199T>C
1 paper
NM_006938.4
p.V95L
c.283G>C
1 paper
NM_006938.4
p.V95Splc
c.284-1G>A
1 paper
NM_006938.4
p.G99_R100insFs
c.297_298ins5
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."