Varaico: Literature-Extracted Genetic Variants

Gene:PAPSS2
Variant:p.A113insFs

PAPSS2

194 papers

RefSeq Summary

Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phospho...

Pfam Domains

APS_kinaseaa 41–193UCSCAdenylylsulphate kinase
PUA_2aa 216–376UCSCPUA-like domain
ATP-sulfurylaseaa 384–607UCSCATP-sulfurylase

Gene Aliases

HGNC Name

3'-phosphoadenosine 5'-phosphosulfate synthase 2

HGNC Alias Symbol

ATPSK2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001015880.2
p.A113insFs
c.337dupG
Surrounding Variants
3 papers
NM_001015880.2
p.A113fs
c.337_338fs
1 paper
NM_001015880.2
p.G114C
c.340G>T
1 paper
NM_001015880.2
p.L109P
c.326T>C
1 paper
NM_001015880.2
p.E105A
c.314A>C
1 paper
NM_001015880.2
p.R102W
c.304C>T
1 paper
NM_001015880.2
p.P124S
c.370C>T
1 paper
NM_001015880.2
p.F125fs
c.373_374fs
1 paper
NM_001015880.2
p.K127fs
c.379_380fs
1 paper
NM_001015880.2
p.K127delFs
c.381delG
1 paper
NM_001015880.2
p.K127_D128Splc
c.381+4A>G
1 paper
NM_001015880.2
p.R87K
c.260G>A
1 paper
NM_001015880.2
p.G84D
c.251G>A
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