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.S285C

c.853A>T

Surrounding Variants

1 paper

NM_022455.5

p.D281G

c.842A>G

1 paper

NM_022455.5

p.T288T

c.864A>G

1 paper

NM_022455.5

p.D280N

c.838G>A

1 paper

NM_022455.5

p.S277F

c.830C>T

1 paper

NM_022455.5

p.L293L

c.877C>T

1 paper

NM_022455.5

p.S277P

c.829T>C

1 paper

NM_022455.5

p.L295insFs

c.883dupT

2 papers

NM_022455.5

p.N275fs

c.823_824fs

1 paper

NM_022455.5

p.I274M

c.822A>G

1 paper

NM_022455.5

p.P296P

c.888T>C

1 paper

NM_022455.5

p.S273P

c.817T>C

1 paper

NM_022455.5

p.N272K

c.816C>A