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.V876_S877delFs

c.2626_2629del4

Surrounding Variants

1 paper

NM_022455.5

p.S877fs

c.2629_2630fs

1 paper

NM_022455.5

p.D878N

c.2632G>A

1 paper

NM_022455.5

p.G873R

c.2617G>C

1 paper

NM_022455.5

p.S879C

c.2636C>G

2 papers

NM_022455.5

p.L872L

c.2614T>C

1 paper

NM_022455.5

p.S879S

c.2637T>G

1 paper

NM_022455.5

p.G880R

c.2638G>A

1 paper

NM_022455.5

p.G880R

c.2638G>C

1 paper

NM_022455.5

p.R870K

c.2609G>A

1 paper

NM_022455.5

p.R870G

c.2608A>G

1 paper

NM_022455.5

p.R870fs

c.2608_2609fs

1 paper

NM_022455.5

p.R870insFs

c.2608_2609insA