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.L222_F223delFs

c.666_667delAG

Surrounding Variants

1 paper

NM_001673.5

p.F223fs

c.667_668fs

1 paper

NM_001673.5

p.A214T

c.640G>A

7 papers

NM_001673.5

p.V210E

c.629T>A

4 papers

NM_001673.5

p.H205P

c.614A>C

1 paper

NM_001673.5

p.S198_V202del5

c.592_605del15

1 paper

NM_001673.5

p.M201fs

c.601_602fs

9 papers

NM_001673.5

p.M201delFs

c.601delT

8 papers

NM_001673.5

p.M201fs

c.601_602fs

1 paper

NM_001673.5

p.A197V

c.590C>T

1 paper

NM_001673.5

p.G194S

c.580G>A

1 paper

NM_001673.5

p.L190*

c.569T>G

1 paper

NM_001673.5

p.L190*

c.569T>A