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.S179P

c.535T>C

Surrounding Variants

1 paper

NM_001079524.2

p.E177K

c.529G>A

1 paper

NM_001079524.2

p.P182L

c.545C>T

1 paper

NM_001079524.2

p.Q183*

c.547C>T

1 paper

NM_001079524.2

p.T186T

c.558A>G

1 paper

NM_001079524.2

p.D163_I164insC

c.487_491ins3

1 paper

NM_001079524.2

p.G154V

c.461G>T

1 paper

NM_001079524.2

p.A153G

c.458C>G

1 paper

NM_001079524.2

p.A148T

c.442G>A

1 paper

NM_001079524.2

p.S141C

c.422C>G

1 paper

NM_001079524.2

p.E193D

c.579A>T

2 papers

NM_001079524.2

p.K201N

c.603A>C

2 papers

NM_001079524.2

p.K201N

c.603A>T