Varaico: Literature-Extracted Genetic Variants

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.I221delFs

c.661delA

Surrounding Variants

1 paper

NM_001015880.2

p.I221fs

c.661_662fs

1 paper

NM_001015880.2

p.Y218insFs

c.652_653insG

2 papers

NM_001015880.2

p.N232S

c.695A>G

1 paper

NM_001015880.2

p.V237I

c.709G>A

5 papers

NM_001015880.2

p.R238*

c.712C>T

1 paper

NM_001015880.2

p.Q213_N214Splc

c.639+11C>A

1 paper

NM_001015880.2

p.Q211R

c.632A>G

2 papers

NM_001015880.2

p.Q211fs

c.631_632fs

1 paper

NM_001015880.2

p.L210insFs

c.630dupG

1 paper

NM_001015880.2

p.L210insFs

c.629_630dupTG

1 paper

NM_001015880.2

p.L209F

c.625C>T

1 paper

NM_001015880.2

p.V206fs

c.616_617fs