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.Y311C

c.932A>G

Surrounding Variants

3 papers

NM_001673.5

p.L324L

c.970C>T

1 paper

NM_001673.5

p.T337A

c.1009A>G

14 papers

NM_001673.5

p.T337I

c.1010C>T

1 paper

NM_001673.5

p.R340C

c.1018C>T

12 papers

NM_001673.5

p.R340H

c.1019G>A

1 paper

NM_001673.5

p.G344Splc

c.1030+1G>A

1 paper

NM_001673.5

p.G344Splc

c.1031-1G>A

1 paper

NM_001673.5

p.Y346fs

c.1036_1037fs

1 paper

NM_001673.5

p.Y346insFs

c.1037dupA

1 paper

NM_001673.5

p.V359M

c.1075G>A

21 papers

NM_001673.5

p.F362V

c.1084T>G

10 papers

NM_001673.5

p.G366E

c.1097G>A