Varaico: Literature-Extracted Genetic Variants

PAPSS1

197 papers

RefSeq Summary

Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conj...

Pfam Domains

APS_kinaseaa 51–203UCSCAdenylylsulphate kinase

PUA_2aa 226–386UCSCPUA-like domain

ATP-sulfurylaseaa 394–617UCSCATP-sulfurylase

Gene Aliases

HGNC Name

3'-phosphoadenosine 5'-phosphosulfate synthase 1

HGNC Alias Symbol

ATPSK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005443.5

p.Y537S

c.1610A>C

Surrounding Variants

1 paper

NM_005443.5

p.Y537C

c.1610A>G

1 paper

NM_005443.5

p.Y537N

c.1609T>A

1 paper

NM_005443.5

p.D535Y

c.1603G>T

1 paper

NM_005443.5

p.S540G

c.1618A>G

2 papers

NM_005443.5

p.H541R

c.1622A>G

1 paper

NM_005443.5

p.E531Q

c.1591G>C

1 paper

NM_005443.5

p.T547M

c.1640C>T

1 paper

NM_005443.5

p.G526R

c.1576G>C

1 paper

NM_005443.5

p.A549V

c.1646C>T

1 paper

NM_005443.5

p.A549A

c.1647C>T

1 paper

NM_005443.5

p.G551D

c.1652G>A

1 paper

NM_005443.5

p.D523A

c.1568A>C