Varaico: Literature-Extracted Genetic Variants

Gene:SHQ1
Variant:p.Y65*

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
4 papers
NM_018130.3
p.Y65*
c.195T>G
Surrounding Variants
4 papers
NM_018130.3
p.Y65*
c.195T>A
4 papers
NM_018130.3
p.L49S
c.146T>C
1 paper
NM_018130.3
p.L49fs
c.145_146fs
1 paper
NM_018130.3
p.R48R
c.144A>G
1 paper
NM_018130.3
p.R48Splc
c.144-10A>G
1 paper
NM_018130.3
p.R48Splc
c.144-24A>G
5 papers
NM_018130.3
p.F72C
c.215T>G
1 paper
NM_018130.3
p.I74F
c.220A>T
1 paper
NM_018130.3
p.G82A
c.245G>C
1 paper
NM_018130.3
p.S100Y
c.299C>A
1 paper
NM_018130.3
p.L106P
c.317T>C
1 paper
NM_018130.3
p.D121H
c.361G>C
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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."