Varaico: Literature-Extracted Genetic Variants

ASS1

364 papers

RefSeq Summary

The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across th...

Pfam Domains

Arginosuc_synthaa 6–170UCSCArginosuccinate synthase N-terminal HUP domain

Arginosuc_syn_Caa 179–402UCSCArginosuccinate synthase C-terminal domain

Gene Aliases

HGNC Name

argininosuccinate synthase 1

HGNC Alias Symbol

CTLN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_054012.4

p.W179G

c.535T>G

Surrounding Variants

23 papers

NM_054012.4

p.W179R

c.535T>A

26 papers

NM_054012.4

p.W179R

c.535T>C

1 paper

NM_054012.4

p.W179*

c.536G>A

2 papers

NM_054012.4

p.P178L

c.533C>T

1 paper

NM_054012.4

p.W179*

c.537G>A

16 papers

NM_054012.4

p.S180N

c.539G>A

2 papers

NM_054012.4

p.S180I

c.539G>T

1 paper

NM_054012.4

p.K176Q

c.526A>C

1 paper

NM_054012.4

p.D182N

c.544G>A

1 paper

NM_054012.4

p.N184delFs

c.551delA

1 paper

NM_054012.4

p.N184S

c.551A>G

2 papers

NM_054012.4

p.N184K

c.552C>A