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

17 papers

NM_001673.5

p.G289A

c.866G>C

Surrounding Variants

2 papers

NM_001673.5

p.G289D

c.866G>A

1 paper

NM_001673.5

p.M290V

c.868A>G

1 paper

NM_001673.5

p.E291fs

c.871_872fs

1 paper

NM_001673.5

p.Q280*

c.838C>T

4 papers

NM_001673.5

p.A267V

c.800C>T

NM_001178076.2

p.A184V

c.551C>T

1 paper

NM_001673.5

p.A267P

c.799G>C

5 papers

NM_001673.5

p.S263F

c.788C>T

1 paper

NM_001673.5

p.G260fs

c.778_779fs

2 papers

NM_001673.5

p.G259Splc

c.776-5T>G

2 papers

NM_001673.5

p.G254V

c.761G>T

1 paper

NM_001673.5

p.R251G

c.751A>G

13 papers

NM_001673.5

p.L247W

c.740T>G