Varaico: Literature-Extracted Genetic Variants

Gene:PAPSS2
Variant:p.F147S

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
1 paper
NM_001015880.2
p.F147S
c.440T>C
Surrounding Variants
1 paper
NM_001015880.2
p.F147Y
c.440T>A
1 paper
NM_001015880.2
p.H136fs
c.406_407fs
1 paper
NM_001015880.2
p.H136delFs
c.406delC
1 paper
NM_001015880.2
p.V160_K161insFs
c.480_481ins4
1 paper
NM_001015880.2
p.V160I
c.478G>A
1 paper
NM_001015880.2
p.K161fs
c.481_482fs
1 paper
NM_001015880.2
p.A132V
c.395C>T
1 paper
NM_001015880.2
p.R129P
c.386G>C
4 papers
NM_001015880.2
p.R129fs
c.385_386fs
1 paper
NM_001015880.2
p.A167V
c.500C>T
1 paper
NM_001015880.2
p.E171A
c.512A>C
1 paper
NM_001015880.2
p.K173Q
c.517A>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."