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.T1050T

c.3150C>T

Surrounding Variants

2 papers

NM_022455.5

p.E1051K

c.3151G>A

1 paper

NM_022455.5

p.E1051*

c.3151G>T

1 paper

NM_022455.5

p.E1051D

c.3153G>C

1 paper

NM_022455.5

p.K1049_T1050insFs

c.3147_3148insA

1 paper

NM_022455.5

p.E1051D

c.3153G>T

1 paper

NM_022455.5

p.R1052C

c.3154C>T

1 paper

NM_022455.5

p.R1052H

c.3155G>A

1 paper

NM_022455.5

p.L1048L

c.3144A>G

3 papers

NM_022455.5

p.R1054delFs

c.3160delA

2 papers

NM_022455.5

p.K1053_R1054insTG

c.3157_3161ins6

1 paper

NM_022455.5

p.K1053*

c.3157A>T

1 paper

NM_022455.5

p.A1047G

c.3140C>G