Varaico: Literature-Extracted Genetic Variants

Gene:SHQ1
Variant:p.A228T

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
1 paper
NM_018130.3
p.A228T
c.682G>A
Surrounding Variants
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.V243Splc
c.727+1G>A
1 paper
NM_018130.3
p.Y251C
c.752A>G
2 papers
NM_018130.3
p.D264G
c.791A>G
1 paper
NM_018130.3
p.R269S
c.805C>A
4 papers
NM_018130.3
p.V271E
c.812T>A
4 papers
NM_018130.3
p.D277fs
c.829_830fs
2 papers
NM_018130.3
p.D277fs
c.829_830fs
1 paper
NM_018130.3
p.I278V
c.832A>G
10 papers
NM_018130.3
p.I276_D277delFs
c.828_831del4
3 papers
NM_018130.3
p.I278T
c.833T>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."