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.E1974K

c.5920G>A

Surrounding Variants

1 paper

NM_022455.5

p.G1973D

c.5918G>A

1 paper

NM_022455.5

p.G1973delFs

c.5919delT

1 paper

NM_022455.5

p.G1973_E1974ins4

c.5917_5921ins12

1 paper

NM_022455.5

p.L1975H

c.5924T>A

1 paper

NM_022455.5

p.I1976delFs

c.5927_5928delTA

1 paper

NM_022455.5

p.Y1971Y

c.5913T>C

6 papers

NM_022455.5

p.Y1971C

c.5912A>G

1 paper

NM_022455.5

p.Y1971delFs

c.5911delT

2 papers

NM_022455.5

p.E1970A

c.5909A>C

2 papers

NM_022455.5

p.E1980del1

c.5938_5939delGAA

1 paper

NM_022455.5

p.E1978K

c.5932G>A

1 paper

NM_022455.5

p.E1970fs

c.5908_5909fs