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.C2G

c.4T>G

Surrounding Variants

1 paper

NM_001673.5

p.M1L

c.1A>T

1 paper

NM_001673.5

p.M1L

c.1A>C

1 paper

NM_001673.5

p.G3_I4insFs

c.9_10insG

3 papers

NM_001673.5

p.A6V

c.17C>T

1 paper

NM_001673.5

p.A6G

c.17C>G

21 papers

NM_001673.5

p.A6E

c.17C>A

1 paper

NM_001673.5

p.A6A

c.18G>A

1 paper

NM_001673.5

p.L7P

c.20T>C

5 papers

NM_001673.5

p.S10R

c.28A>C

4 papers

NM_001673.5

p.S10R

c.30T>G

4 papers

NM_001673.5

p.S10R

c.30T>A

1 paper

NM_001673.5

p.D11N

c.31G>A