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

25 papers

NM_001673.5

p.R550C

c.1648C>T

Surrounding Variants

9 papers

NM_001673.5

p.R550H

c.1649G>A

1 paper

NM_001673.5

p.L552R

c.1655T>G

8 papers

NM_001673.5

p.W541_I542delFs

c.1623_1624delTC

1 paper

NM_001673.5

p.I542F

c.1624A>T

1 paper

NM_001673.5

p.W541C

c.1623G>T

1 paper

NM_001673.5

p.W541fs

c.1621_1622fs

1 paper

NM_001673.5

p.W541C

c.1623G>C

9 papers

NM_001673.5

p.W541fs

c.1621_1622fs

1 paper

NM_001673.5

p.M538I

c.1614G>T

1 paper

NM_001673.5

p.M538I

c.1614G>C

1 paper

NM_001673.5

p.M538I

c.1614G>A

2 papers

NM_001673.5

p.M538V

c.1612A>G