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.T303A

c.907A>G

Surrounding Variants

1 paper

NM_022455.5

p.S302C

c.905C>G

1 paper

NM_022455.5

p.S302F

c.905C>T

2 papers

NM_022455.5

p.Q305*

c.913C>T

1 paper

NM_022455.5

p.Q305R

c.914A>G

14 papers

NM_022455.5

p.S299delFs

c.896delC

1 paper

NM_022455.5

p.S299fs

c.895_896fs

1 paper

NM_022455.5

p.P296P

c.888T>C

1 paper

NM_022455.5

p.L295insFs

c.883dupT

1 paper

NM_022455.5

p.F309_C310Splc

c.927+5G>A

1 paper

NM_022455.5

p.L293L

c.877C>T

1 paper

NM_022455.5

p.T288T

c.864A>G

1 paper

NM_022455.5

p.F309_C310Splc

c.927+26A>G