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.A1988G

c.5963C>G

Surrounding Variants

6 papers

NM_022455.5

p.Q1989*

c.5965C>T

1 paper

NM_022455.5

p.Y1987C

c.5960A>G

1 paper

NM_022455.5

p.Q1989Q

c.5967A>G

1 paper

NM_022455.5

p.Y1987D

c.5959T>G

1 paper

NM_022455.5

p.R1986H

c.5957G>A

1 paper

NM_022455.5

p.R1986insFs

c.5957dupG

4 papers

NM_022455.5

p.R1986C

c.5956C>T

1 paper

NM_022455.5

p.H1991N

c.5971C>A

1 paper

NM_172349.5

p.H1700Y

c.5098C>T

1 paper

NM_022455.5

p.H1991R

c.5972A>G

1 paper

NM_022455.5

p.R1984R

c.5952A>G

2 papers

NM_022455.5

p.D1992H

c.5974G>C