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.L95delFs

c.284delA

Surrounding Variants

1 paper

NM_005443.5

p.N96Y

c.286A>T

1 paper

NM_005443.5

p.G94G

c.282T>A

1 paper

NM_005443.5

p.Q93R

c.278A>G

1 paper

NM_005443.5

p.Q93E

c.277C>G

1 paper

NM_005443.5

p.N98I

c.293A>T

1 paper

NM_005443.5

p.N98S

c.293A>G

1 paper

NM_005443.5

p.R92C

c.274C>T

1 paper

NM_005443.5

p.I91I

c.273T>C

1 paper

NM_005443.5

p.L99L

c.297T>A

1 paper

NM_005443.5

p.G100S

c.298G>A

1 paper

NM_005443.5

p.F101Y

c.302T>A

1 paper

NM_005443.5

p.D89A

c.266A>C