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.I438V

c.1312A>G

Surrounding Variants

1 paper

NM_001673.5

p.Y429_L430delFs

c.1286_1289del4

1 paper

NM_001673.5

p.L430insFs

c.1288_1289insTA

1 paper

NM_001673.5

p.L430*

c.1289T>A

1 paper

NM_001673.5

p.Y429fs

c.1285_1286fs

5 papers

NM_001673.5

p.Y428C

c.1283A>G

1 paper

NM_001673.5

p.S427delFs

c.1281delG

1 paper

NM_001673.5

p.Y428fs

c.1282_1283fs

2 papers

NM_001673.5

p.S427P

c.1279T>C

1 paper

NM_001673.5

p.R424*

c.1270C>T

1 paper

NM_001673.5

p.V418_P419del2

c.1252_1256del6

1 paper

NM_001673.5

p.V418_P419del1

c.1254_1256delGGG

1 paper

NM_001673.5

p.L447_L448del1

c.1341_1343delAGG