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.F343V

c.1027T>G

Surrounding Variants

1 paper

NM_005443.5

p.E342K

c.1024G>A

1 paper

NM_005443.5

p.R339H

c.1016G>A

1 paper

NM_005443.5

p.A353T

c.1057G>A

7 papers

NM_005443.5

p.R333C

c.997C>T

1 paper

NM_005443.5

p.R354G

c.1060A>G

1 paper

NM_005443.5

p.Y330C

c.989A>G

1 paper

NM_005443.5

p.F326S

c.977T>C

1 paper

NM_005443.5

p.D321A

c.962A>C

1 paper

NM_005443.5

p.R319G

c.955A>G

1 paper

NM_005443.5

p.E318D

c.954G>T

1 paper

NM_005443.5

p.V306E

c.917T>A

1 paper

NM_005443.5

p.M368I

c.1104G>T