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.C622S

c.1865G>C

Surrounding Variants

1 paper

NM_022455.5

p.Y623insFs

c.1867dupT

1 paper

NM_022455.5

p.C622S

c.1864T>A

1 paper

NM_022455.5

p.C622fs

c.1864_1865fs

1 paper

NM_022455.5

p.L621L

c.1863C>A

1 paper

NM_022455.5

p.C622insFs

c.1864_1865insT

1 paper

NM_022455.5

p.L621L

c.1863C>G

1 paper

NM_022455.5

p.L621L

c.1863C>T

1 paper

NM_022455.5

p.Y623fs

c.1867_1868fs

2 papers

NM_022455.5

p.Y623C

c.1868A>G

1 paper

NM_022455.5

p.I624V

c.1870A>G

1 paper

NM_022455.5

p.G625delFs

c.1873delG

1 paper

NM_022455.5

p.G625fs

c.1873_1874fs