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

1 paper

NM_001673.5

p.I474M

c.1422A>G

Surrounding Variants

1 paper

NM_001673.5

p.T475A

c.1423A>G

6 papers

NM_001673.5

p.T475I

c.1424C>T

5 papers

NM_001673.5

p.T475N

c.1424C>A

1 paper

NM_001673.5

p.V477I

c.1429G>A

14 papers

NM_001673.5

p.S480F

c.1439C>T

1 paper

NM_001673.5

p.R465Q

c.1394G>A

1 paper

NM_001178076.2

p.K377R

c.1130A>G

12 papers

NM_001673.5

p.V489D

c.1466T>A

5 papers

NM_001673.5

p.Q492_V493Splc

c.1476+1G>A

1 paper

NM_001673.5

p.V477_Q492del0

c.1429_1476del48

1 paper

NM_001673.5

p.S455F

c.1364C>T

3 papers

NM_001673.5

p.F452I

c.1354T>A