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

7 papers

NM_004670.4

p.R329*

c.985C>T

NM_001015880.2

p.R334*

c.1000C>T

Surrounding Variants

1 paper

NM_001015880.2

p.R334Q

c.1001G>A

1 paper

NM_001015880.2

p.E337_F338insG

c.1009_1013ins3

1 paper

NM_001015880.2

p.V330I

c.988G>A

1 paper

NM_001015880.2

p.G327E

c.980G>A

2 papers

NM_001015880.2

p.R346P

c.1037G>C

1 paper

NM_001015880.2

p.R349C

c.1045C>T

1 paper

NM_001015880.2

p.C318G

c.952T>G

1 paper

NM_004670.4

p.H355delFs

c.1063delC

1 paper

NM_004670.4

p.H355fs

c.1063_1064fs

1 paper

NM_001015880.2

p.P302A

c.904C>G

1 paper

NM_001015880.2

p.V296M

c.886G>A