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

1–12 of 256 variants

8 papers

NM_005443.5

p.Y135F

c.404A>T

7 papers

NM_005443.5

p.R333C

c.997C>T

3 papers

NM_005443.5

p.T399S

c.1195A>T

3 papers

NM_005443.5

p.T399S

c.1196C>G

3 papers

NM_005443.5

p.I519V

c.1555A>G

2 papers

NM_005443.5

p.M1I

c.3G>A

2 papers

NM_005443.5

p.K65R

c.194A>G

2 papers

NM_005443.5

p.R112G

c.334C>G

2 papers

NM_005443.5

p.K175R

c.524A>G

2 papers

NM_005443.5

p.N426K

c.1278T>G

2 papers

NM_005443.5

p.N426K

c.1278T>A

2 papers

NM_005443.5

p.G427A

c.1280G>C