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

1–12 of 202 variants

25 papers

NM_001673.5

p.R550C

c.1648C>T

21 papers

NM_001673.5

p.A6E

c.17C>A

21 papers

NM_001673.5

p.F362V

c.1084T>G

18 papers

NM_001673.5

p.R49Q

c.146G>A

17 papers

NM_001673.5

p.G289A

c.866G>C

15 papers

NM_001673.5

p.Y398C

c.1193A>G

14 papers

NM_001673.5

p.T337I

c.1010C>T

14 papers

NM_001673.5

p.S480F

c.1439C>T

13 papers

NM_001673.5

p.L247W

c.740T>G

13 papers

NM_001673.5

p.R407*

c.1219C>T

12 papers

NM_001673.5

p.D97N

c.289G>A

12 papers

NM_001673.5

p.L145S

c.434T>C