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.N240S

c.719A>G

Surrounding Variants

10 papers

NM_001673.5

p.V243A

c.728T>C

2 papers

NM_001673.5

p.R236delFs

c.706delT

13 papers

NM_001673.5

p.L247W

c.740T>G

1 paper

NM_001178075.2

p.V210E

c.629T>A

1 paper

NM_001673.5

p.R251G

c.751A>G

1 paper

NM_001178076.2

p.I145T

c.434T>C

2 papers

NM_001673.5

p.G254V

c.761G>T

4 papers

NM_001673.5

p.G225Splc

c.674-1G>A

1 paper

NM_001673.5

p.F223fs

c.667_668fs

5 papers

NM_001673.5

p.L222_F223delFs

c.666_667delAG

1 paper

NM_001673.5

p.A214T

c.640G>A

7 papers

NM_001673.5

p.V210E

c.629T>A