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.D163D

c.489T>C

Surrounding Variants

1 paper

NM_022455.5

p.D163N

c.487G>A

2 papers

NM_022455.5

p.D163Y

c.487G>T

1 paper

NM_022455.5

p.D165fs

c.493_494fs

1 paper

NM_022455.5

p.D165delFs

c.494delA

1 paper

NM_022455.5

p.D161E

c.483T>A

1 paper

NM_022455.5

p.D161E

c.483T>G

1 paper

NM_022455.5

p.S166F

c.497C>T

2 papers

NM_022455.5

p.D160D

c.480C>T

1 paper

NM_022455.5

p.V159V

c.477G>A

1 paper

NM_022455.5

p.D169N

c.505G>A

2 papers

NM_022455.5

p.C158G

c.472T>G

1 paper

NM_022455.5

p.E171insFs

c.512_513insGC