Varaico: Literature-Extracted Genetic Variants

ASNS

175 papers

RefSeq Summary

The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 ...

Pfam Domains

GATase_7aa 47–166UCSCGlutamine amidotransferase domain

Asn_synthaseaa 234–388UCSCAsparagine synthase

Asn_synthaseaa 380–545UCSCAsparagine synthase

Gene Aliases

HGNC Name

asparagine synthetase (glutamine-hydrolyzing)

HGNC Previous Name

asparagine synthetase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001673.5

p.F180I

c.538T>A

Surrounding Variants

1 paper

NM_001673.5

p.P182S

c.544C>T

1 paper

NM_001673.5

p.F174S

c.521T>C

1 paper

NM_001673.5

p.E186K

c.556G>A

1 paper

NM_001673.5

p.L188S

c.563T>C

1 paper

NM_001673.5

p.L190*

c.569T>G

1 paper

NM_001673.5

p.L190*

c.569T>A

1 paper

NM_001673.5

p.T166R

c.497C>G

1 paper

NM_001673.5

p.G194S

c.580G>A

1 paper

NM_001673.5

p.A197V

c.590C>T

8 papers

NM_001673.5

p.M201fs

c.601_602fs

9 papers

NM_001673.5

p.M201delFs

c.601delT

1 paper

NM_001673.5

p.M201fs

c.601_602fs