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

2 papers

NM_022455.5

p.P978A

c.2932C>G

Surrounding Variants

3 papers

NM_022455.5

p.A976V

c.2927C>T

1 paper

NM_022455.5

p.S979S

c.2937C>T

1 paper

NM_022455.5

p.A976T

c.2926G>A

1 paper

NM_022455.5

p.S981delFs

c.2941delA

2 papers

NM_022455.5

p.G982delFs

c.2944delG

1 paper

NM_022455.5

p.G982R

c.2944G>A

1 paper

NM_022455.5

p.G982R

c.2944G>C

2 papers

NM_022455.5

p.G982E

c.2945G>A

2 papers

NM_022455.5

p.G983fs

c.2947_2948fs

1 paper

NM_022455.5

p.T972P

c.2914A>C

2 papers

NM_022455.5

p.T972A

c.2914A>G

1 paper

NM_022455.5

p.D984G

c.2951A>G