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.P1006delFs

c.3017delC

Surrounding Variants

2 papers

NM_022455.5

p.P1006S

c.3016C>T

1 paper

NM_022455.5

p.P1006L

c.3017C>T

1 paper

NM_022455.5

p.R1003*

c.3007A>T

1 paper

NM_022455.5

p.A1007A

c.3021T>C

1 paper

NM_022455.5

p.K1002fs

c.3004_3005fs

1 paper

NM_022455.5

p.K1002fs

c.3004_3005fs

6 papers

NM_022455.5

p.K1002delFs

c.3004_3005delAA

1 paper

NM_022455.5

p.D1001V

c.3002A>T

1 paper

NM_022455.5

p.G1009D

c.3026G>A

1 paper

NM_022455.5

p.D1001N

c.3001G>A

1 paper

NM_022455.5

p.S1011delFs

c.3031delA

1 paper

NM_022455.5

p.K1010*

c.3028A>T