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.E1261*

c.3781G>T

Surrounding Variants

1 paper

NM_022455.5

p.E1261fs

c.3781_3782fs

1 paper

NM_022455.5

p.A1260delFs

c.3780delT

1 paper

NM_022455.5

p.E1261E

c.3783G>A

1 paper

NM_022455.5

p.Q1259H

c.3777G>C

1 paper

NM_022455.5

p.Q1259H

c.3777G>T

1 paper

NM_022455.5

p.A1260delFs

c.3778delG

1 paper

NM_172349.5

p.A969_E970delFs

c.2905_2908del4

1 paper

NM_022455.5

p.P1263T

c.3787C>A

1 paper

NM_022455.5

p.Q1259*

c.3775C>T

1 paper

NM_022455.5

p.P1258Fs

c.3774delinsCAGCTCACCFs

1 paper

NM_022455.5

p.E1264K

c.3790G>A

1 paper

NM_022455.5

p.E1264*

c.3790G>T