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.K10E

c.28A>G

Surrounding Variants

1 paper

NM_005443.5

p.L7L

c.21G>A

1 paper

NM_005443.5

p.L7Q

c.20T>A

1 paper

NM_005443.5

p.S14R

c.40A>C

1 paper

NM_005443.5

p.S14R

c.42C>G

1 paper

NM_005443.5

p.S14R

c.42C>A

1 paper

NM_005443.5

p.G5fs

c.13_14fs

1 paper

NM_005443.5

p.N15S

c.44A>G

1 paper

NM_005443.5

p.A17P

c.49G>C

1 paper

NM_005443.5

p.A17T

c.49G>A

1 paper

NM_005443.5

p.E2G

c.5A>G

1 paper

NM_005443.5

p.M1I

c.3G>T

2 papers

NM_005443.5

p.M1I

c.3G>A