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.G148C

c.442G>T

Surrounding Variants

1 paper

NM_005443.5

p.E147D

c.441A>T

1 paper

NM_005443.5

p.E147*

c.439G>T

1 paper

NM_005443.5

p.H146Q

c.438T>G

1 paper

NM_005443.5

p.H146N

c.436C>A

1 paper

NM_005443.5

p.I145delFs

c.433delT

1 paper

NM_005443.5

p.R143S

c.429G>T

1 paper

NM_005443.5

p.N141K

c.423T>A

1 paper

NM_005443.5

p.E155*

c.463G>T

1 paper

NM_005443.5

p.E155G

c.464A>G

1 paper

NM_005443.5

p.R139G

c.415C>G

1 paper

NM_005443.5

p.D138N

c.412G>A

1 paper

NM_005443.5

p.A160S

c.478G>T