Varaico: Literature-Extracted Genetic Variants

Gene:SHQ1
Variant:p.D175Y

SHQ1

93 papers

RefSeq Summary

SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MI...

Pfam Domains

SHQ1-like_CSaa 3–95UCSCSHQ1-like, CS domain
SHQ1aa 234–419UCSCSHQ1 protein, Shq1 domain

Gene Aliases

HGNC Name

SHQ1, H/ACA ribonucleoprotein assembly factor

HGNC Alias Symbol

FLJ10539

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_018130.3
p.D175Y
c.523G>T
Surrounding Variants
1 paper
NM_018130.3
p.K172N
c.516G>T
1 paper
NM_018130.3
p.K172N
c.516G>C
1 paper
NM_018130.3
p.D167H
c.499G>C
1 paper
NM_018130.3
p.D163Y
c.487G>T
1 paper
NM_018130.3
p.N216K
c.648T>G
2 papers
NM_018130.3
p.N216K
c.648T>A
1 paper
NM_018130.3
p.A228T
c.682G>A
1 paper
NM_018130.3
p.V243Splc
c.727+1G>A
1 paper
NM_018130.3
p.Q162_D163Splc
c.486+1G>C
1 paper
NM_018130.3
p.R160W
c.478C>T
1 paper
NM_018130.3
p.L142F
c.426G>T
1 paper
NM_018130.3
p.L142fs
c.424_425fs
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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."