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.T747insFs

c.2239_2240insT

Surrounding Variants

1 paper

NM_022455.5

p.T747fs

c.2239_2240fs

1 paper

NM_022455.5

p.T747insFs

c.2239dupA

1 paper

NM_022455.5

p.N748D

c.2242A>G

1 paper

NM_022455.5

p.S744*

c.2231C>A

1 paper

NM_022455.5

p.S744*

c.2231C>G

1 paper

NM_022455.5

p.S744L

c.2231C>T

1 paper

NM_022455.5

p.A750fs

c.2248_2249fs

1 paper

NM_022455.5

p.A750delFs

c.2249_2250delCT

2 papers

NM_022455.5

p.A750V

c.2249C>T

1 paper

NM_022455.5

p.A750A

c.2250T>C

3 papers

NM_022455.5

p.Q743*

c.2227C>T

1 paper

NM_022455.5

p.S752delFs

c.2254delT