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.S1143R

c.3429T>A

Surrounding Variants

1 paper

NM_022455.5

p.S1143R

c.3429T>G

1 paper

NM_022455.5

p.S1143R

c.3427A>C

1 paper

NM_022455.5

p.E1144D

c.3432G>C

1 paper

NM_022455.5

p.E1144D

c.3432G>T

1 paper

NM_022455.5

p.M1141_N1142insFs

c.3423_3424insCC

1 paper

NM_022455.5

p.E1147*

c.3439G>T

1 paper

NM_022455.5

p.V1140fs

c.3418_3419fs

1 paper

NM_022455.5

p.L1148insFs

c.3442dupC

1 paper

NM_022455.5

p.S1139_V1140delFs

c.3417_3418delTG

2 papers

NM_022455.5

p.N1149S

c.3446A>G

1 paper

NM_022455.5

p.G1150D

c.3449G>A

1 paper

NM_022455.5

p.P1135L

c.3404C>T