Varaico: Literature-Extracted Genetic Variants

Gene:SHQ1
Variant:p.N562K

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.N562K
c.1686C>G
Surrounding Variants
1 paper
NM_018130.3
p.N562K
c.1686C>A
1 paper
NM_018130.3
p.R563H
c.1688G>A
1 paper
NM_018130.3
p.T559P
c.1675A>C
1 paper
NM_018130.3
p.G571fs
c.1711_1712fs
1 paper
NM_018130.3
p.G571delFs
c.1712delC
1 paper
NM_018130.3
p.L542I
c.1624C>A
1 paper
NM_018130.3
p.P537fs
c.1609_1610fs
1 paper
NM_018130.3
p.S535delFs
c.1605delA
1 paper
NM_018130.3
p.A514D
c.1541C>A
1 paper
NM_018130.3
p.P494P
c.1482C>T
1 paper
NM_018130.3
p.S490S
c.1470T>C
1 paper
NM_018130.3
p.S490C
c.1469C>G
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