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.L381F

c.1141C>T

Surrounding Variants

1 paper

NM_005443.5

p.R386Q

c.1157G>A

1 paper

NM_005443.5

p.Y388F

c.1163A>T

1 paper

NM_005443.5

p.M368_V369delFs

c.1102_1105del4

1 paper

NM_005443.5

p.M368I

c.1104G>T

1 paper

NM_005443.5

p.M368I

c.1104G>C

1 paper

NM_005443.5

p.M368I

c.1104G>A

1 paper

NM_005443.5

p.Y396*

c.1188T>G

1 paper

NM_005443.5

p.R397C

c.1189C>T

1 paper

NM_005443.5

p.R397P

c.1190G>C

3 papers

NM_005443.5

p.T399S

c.1195A>T

3 papers

NM_005443.5

p.T399S

c.1196C>G

1 paper

NM_005443.5

p.L403R

c.1208T>G