Varaico: Literature-Extracted Genetic Variants

NSD1

882 papers

RefSeq Summary

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein en...

Pfam Domains

PWWPaa 324–431UCSCPWWP domain

PHD-1st_NSDaa 1539–1587UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger 1

PHD_NSDaa 1589–1638UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger

Gene Aliases

HGNC Name

nuclear receptor binding SET domain protein 1

HGNC Previous Symbol

STO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022455.5

p.A428delFs

c.1283delC

Surrounding Variants

1 paper

NM_022455.5

p.A423fs

c.1267_1268fs

1 paper

NM_022455.5

p.V433delFs

c.1299delT

1 paper

NM_022455.5

p.V433_P434delFs

c.1299_1302del4

1 paper

NM_022455.5

p.P434S

c.1300C>T

1 paper

NM_022455.5

p.E422K

c.1264G>A

1 paper

NM_022455.5

p.E422fs

c.1264_1265fs

1 paper

NM_022455.5

p.E422delFs

c.1266delA

1 paper

NM_022455.5

p.P434L

c.1301C>T

5 papers

NM_022455.5

p.W421*

c.1263G>A

5 papers

NM_022455.5

p.W421*

c.1262G>A

1 paper

NM_022455.5

p.K435fs

c.1303_1304fs

1 paper

NM_022455.5

p.G436insFs

c.1306_1307insTG