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

2 papers

NM_022455.5

p.S51P

c.151T>C

Surrounding Variants

1 paper

NM_022455.5

p.S51S

c.153G>A

1 paper

NM_022455.5

p.L50_S51delFs

c.150_153del4

1 paper

NM_022455.5

p.T52_V53ins0

c.155_157dupCTG

1 paper

NM_022455.5

p.T52delFs

c.156delT

1 paper

NM_022455.5

p.V53fs

c.157_158fs

4 papers

NM_022455.5

p.V53A

c.158T>C

1 paper

NM_022455.5

p.M48V

c.142A>G

1 paper

NM_022455.5

p.G55A

c.164G>C

1 paper

NM_022455.5

p.S57T

c.169T>A

1 paper

NM_022455.5

p.Q58*

c.172C>T

1 paper

NM_022455.5

p.P42S

c.124C>T

1 paper

NM_022455.5

p.A60V

c.179C>T