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.F249fs

c.745_746fs

Surrounding Variants

1 paper

NM_001079524.2

p.F249_E250insFs

c.747_748insTT

1 paper

NM_001079524.2

p.W251*

c.752G>A

1 paper

NM_001079524.2

p.W251*

c.753G>A

1 paper

NM_001079524.2

p.V256_E257insFs

c.768_769insTT

1 paper

NM_001079524.2

p.L258F

c.774G>T

1 paper

NM_001079524.2

p.S274P

c.820T>C

1 paper

NM_001079524.2

p.I293N

c.878T>A

1 paper

NM_001079524.2

p.H303Y

c.907C>T

1 paper

NM_001079524.2

p.T309A

c.925A>G

1 paper

NM_001079524.2

p.T309N

c.926C>A

2 papers

NM_001079524.2

p.K201N

c.603A>C

2 papers

NM_001079524.2

p.K201N

c.603A>T