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.S65_P66del2

c.193_197del6

Surrounding Variants

1 paper

NM_022455.5

p.D64Y

c.190G>T

1 paper

NM_022455.5

p.P66insFs

c.197dupC

1 paper

NM_022455.5

p.P66P

c.198A>T

1 paper

NM_022455.5

p.S67fs

c.199_200fs

1 paper

NM_022455.5

p.C68_P71del4

c.202_212del12

1 paper

NM_022455.5

p.Y61C

c.182A>G

1 paper

NM_022455.5

p.Y61F

c.182A>T

1 paper

NM_022455.5

p.C68delins

c.203delinsTCTGAGGGGT

1 paper

NM_022455.5

p.A60A

c.180T>A

1 paper

NM_022455.5

p.A60V

c.179C>T

1 paper

NM_022455.5

p.Y69*

c.207C>A

1 paper

NM_022455.5

p.Y69*

c.207C>G