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.S1498insFs

c.4493dupC

Surrounding Variants

1 paper

NM_022455.5

p.S1498*

c.4493C>A

1 paper

NM_022455.5

p.S1498*

c.4493C>G

1 paper

NM_022455.5

p.S1498S

c.4494A>G

1 paper

NM_022455.5

p.G1497D

c.4490G>A

1 paper

NM_022455.5

p.G1497V

c.4490G>T

2 papers

NM_022455.5

p.E1499G

c.4496A>G

1 paper

NM_022455.5

p.P1496L

c.4487C>T

2 papers

NM_022455.5

p.E1499D

c.4497G>C

1 paper

NM_022455.5

p.E1499D

c.4497G>T

2 papers

NM_022455.5

p.E1499_G1500Splc

c.4497+1G>A

1 paper

NM_022455.5

p.K1493_P1496insFs

c.4479_4488dup10

2 papers

NM_022455.5

p.S1491S

c.4473G>A