Varaico: Literature-Extracted Genetic Variants

PAICS

78 papers

RefSeq Summary

This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-te...

Pfam Domains

SAICAR_syntaa 12–248UCSCSAICAR synthetase

AIRCaa 267–409UCSCAIR carboxylase

Gene Aliases

HGNC Name

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

HGNC Previous Symbol

PAIS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001079524.2

p.G72D

c.215G>A

Surrounding Variants

1 paper

NM_001079524.2

p.K74R

c.221A>G

1 paper

NM_001079524.2

p.I87T

c.260T>C

1 paper

NM_001079524.2

p.I94T

c.281T>C

1 paper

NM_001079524.2

p.I96fs

c.286_287fs

1 paper

NM_001079524.2

p.E97*

c.289G>T

1 paper

NM_001079524.2

p.W98_A104delFs

c.292_311del20

1 paper

NM_001079524.2

p.W98*

c.293G>A

1 paper

NM_001079524.2

p.W98*

c.294G>A

1 paper

NM_001079524.2

p.Y122_P123del2

c.364_368del6

1 paper

NM_001079524.2

p.P123S

c.367C>T

1 paper

NM_001079524.2

p.S141C

c.422C>G

1 paper

NM_001079524.2

p.A148T

c.442G>A