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

1–12 of 57 variants

3 papers

NM_001079524.2

p.K53R

c.158A>G

2 papers

NM_001079524.2

p.K201N

c.603A>C

2 papers

NM_001079524.2

p.K201N

c.603A>T

2 papers

NM_001079524.2

p.V359A

c.1076T>C

1 paper

NM_001079524.2

p.M1del1

c.1_2delATG

1 paper

NM_001079524.2

p.V6Splc

c.17-2A>G

1 paper

NM_001079524.2

p.K17*

c.49A>T

1 paper

NM_001079524.2

p.L25L

c.73T>C

1 paper

NM_001079524.2

p.T40I

c.119C>T

1 paper

NM_001079524.2

p.A41delFs

c.122_123delCA

1 paper

NM_001079524.2

p.L50L

c.148C>T

1 paper

NM_001079524.2

p.E51E

c.153A>G