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.L76M

c.226C>A

Surrounding Variants

1 paper

NM_005443.5

p.H79N

c.235C>A

1 paper

NM_005443.5

p.L72L

c.216G>A

1 paper

NM_005443.5

p.H79L

c.236A>T

1 paper

NM_005443.5

p.G80S

c.238G>A

1 paper

NM_005443.5

p.A71T

c.211G>A

1 paper

NM_005443.5

p.S69S

c.207C>T

1 paper

NM_005443.5

p.S69R

c.207C>G

1 paper

NM_005443.5

p.S69R

c.207C>A

1 paper

NM_005443.5

p.C83R

c.247T>C

1 paper

NM_005443.5

p.S69C

c.205A>T

1 paper

NM_005443.5

p.T85A

c.253A>G

1 paper

NM_005443.5

p.T66T

c.198T>C