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.F400V

c.1198T>G

Surrounding Variants

1 paper

NM_001673.5

p.L399F

c.1197G>T

1 paper

NM_001673.5

p.L399F

c.1197G>C

17 papers

NM_001673.5

p.Y398C

c.1193A>G

NM_001178076.2

p.Y315C

c.944A>G

NM_001178075.2

p.Y377C

c.1130A>G

13 papers

NM_001673.5

p.Y398S

c.1193A>C

NM_001178076.2

p.Y315S

c.944A>C

3 papers

NM_001673.5

p.Y398insFs

c.1192dupT

5 papers

NM_001673.5

p.Y398fs

c.1192_1193fs

1 paper

NM_001673.5

p.L403F

c.1207C>T

1 paper

NM_001673.5

p.L403L

c.1209C>G

1 paper

NM_001673.5

p.R404C

c.1210C>T

11 papers

NM_001673.5

p.R404H

c.1211G>A

NM_001178076.2

p.R321H

c.962G>A

1 paper

NM_001673.5

p.A405T

c.1213G>A

15 papers

NM_001673.5

p.R407*

c.1219C>T

NM_001178076.2

p.R324*

c.970C>T