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.L767_I768delFs

c.2300_2304del5

Surrounding Variants

2 papers

NM_022455.5

p.S766L

c.2297C>T

2 papers

NM_022455.5

p.N765N

c.2295C>T

1 paper

NM_022455.5

p.K769E

c.2305A>G

2 papers

NM_022455.5

p.A772delFs

c.2314delG

1 paper

NM_022455.5

p.S763_A773insFs

c.2289_2317dup29

1 paper

NM_022455.5

p.A772T

c.2314G>A

1 paper

NM_022455.5

p.A772fs

c.2314_2315fs

1 paper

NM_022455.5

p.I761Fs

c.2281_2282delinsTGTCATCAACCTGTCFs

1 paper

NM_022455.5

p.I761fs

c.2281_2282fs

1 paper

NM_022455.5

p.A773fs

c.2317_2318fs

2 papers

NM_022455.5

p.S759S

c.2277A>T

3 papers

NM_022455.5

p.S759*

c.2276C>A