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.A480S

c.1438G>T

Surrounding Variants

1 paper

NM_022455.5

p.A480delFs

c.1440delT

1 paper

NM_022455.5

p.L479Q

c.1436T>A

1 paper

NM_022455.5

p.F481fs

c.1441_1442fs

2 papers

NM_022455.5

p.S478*

c.1433C>A

2 papers

NM_022455.5

p.S478*

c.1433C>G

2 papers

NM_022455.5

p.D482delFs

c.1446delT

1 paper

NM_022455.5

p.L476*

c.1427T>A

1 paper

NM_022455.5

p.C475W

c.1425T>G

1 paper

NM_022455.5

p.E484E

c.1452A>G

1 paper

NM_022455.5

p.S486insFs

c.1456dupT

2 papers

NM_022455.5

p.H485R

c.1454A>G

1 paper

NM_022455.5

p.S486delFs

c.1456delT