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

3 papers

NM_022455.5

p.T545delFs

c.1633delA

Surrounding Variants

1 paper

NM_022455.5

p.T545insFs

c.1633dupA

2 papers

NM_022455.5

p.T545fs

c.1633_1634fs

3 papers

NM_022455.5

p.T545M

c.1634C>T

1 paper

NM_022455.5

p.T545T

c.1635G>A

1 paper

NM_022455.5

p.Q546*

c.1636C>T

1 paper

NM_022455.5

p.S548delFs

c.1644delT

1 paper

NM_022455.5

p.G540G

c.1620G>T

1 paper

NM_022455.5

p.N549D

c.1645A>G

1 paper

NM_022455.5

p.N549Y

c.1645A>T

1 paper

NM_022455.5

p.N549fs

c.1645_1646fs

1 paper

NM_022455.5

p.G540R

c.1618G>A

1 paper

NM_022455.5

p.N549K

c.1647T>A