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.L481L

c.1441C>T

Surrounding Variants

1 paper

NM_005443.5

p.P483S

c.1447C>T

1 paper

NM_005443.5

p.E484K

c.1450G>A

1 paper

NM_005443.5

p.L476L

c.1426T>C

1 paper

NM_005443.5

p.A474S

c.1420G>T

1 paper

NM_005443.5

p.V488V

c.1464G>T

1 paper

NM_005443.5

p.A473T

c.1417G>A

1 paper

NM_005443.5

p.I490I

c.1470C>A

1 paper

NM_005443.5

p.Q471R

c.1412A>G

1 paper

NM_005443.5

p.K470T

c.1409A>C

1 paper

NM_005443.5

p.M496I

c.1488G>T

1 paper

NM_005443.5

p.M496I

c.1488G>C

1 paper

NM_005443.5

p.M496I

c.1488G>A