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

5 papers

NM_001673.5

p.E160delFs

c.478delC

Surrounding Variants

3 papers

NM_001673.5

p.E160fs

c.478_479fs

1 paper

NM_001673.5

p.S159T

c.475T>A

1 paper

NM_001673.5

p.G153V

c.458G>T

12 papers

NM_001673.5

p.L145S

c.434T>C

1 paper

NM_001673.5

p.Y140delFs

c.418_419delTA

1 paper

NM_001673.5

p.D138V

c.413A>T

9 papers

NM_001673.5

p.D138A

c.413A>C

1 paper

NM_001673.5

p.F134S

c.401T>C

1 paper

NM_001673.5

p.T128I

c.383C>T

1 paper

NM_001673.5

p.V124L

c.370G>C

4 papers

NM_001673.5

p.F123S

c.368T>C

1 paper

NM_001673.5

p.G119D

c.356G>A