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.E720D

c.2160G>T

Surrounding Variants

1 paper

NM_022455.5

p.E720E

c.2160G>A

1 paper

NM_022455.5

p.E720D

c.2160G>C

1 paper

NM_022455.5

p.P721S

c.2161C>T

1 paper

NM_022455.5

p.A719G

c.2156C>G

1 paper

NM_022455.5

p.G722E

c.2165G>A

2 papers

NM_022455.5

p.T723S

c.2167A>T

1 paper

NM_022455.5

p.S718fs

c.2152_2153fs

1 paper

NM_022455.5

p.S718G

c.2152A>G

1 paper

NM_022455.5

p.T723insFs

c.2168_2169insA

2 papers

NM_022455.5

p.T723S

c.2168C>G

1 paper

NM_022455.5

p.T723T

c.2169C>T

1 paper

NM_022455.5

p.K717_S718delFs

c.2151_2154del4