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.S1193_D1194delFs

c.3578_3582del5

Surrounding Variants

1 paper

NM_022455.5

p.P1192R

c.3575C>G

1 paper

NM_022455.5

p.D1194del1

c.3580_3582delGAC

2 papers

NM_022455.5

p.P1195delFs

c.3585delT

1 paper

NM_022455.5

p.Q1197_R1200del4

c.3589_3599del12

1 paper

NM_022455.5

p.V1196V

c.3588G>T

1 paper

NM_022455.5

p.Q1197_R1200del0

c.3591_3599del9

3 papers

NM_022455.5

p.R1188S

c.3564G>C

3 papers

NM_022455.5

p.R1188S

c.3564G>T

1 paper

NM_022455.5

p.G1199insFs

c.3597dupG

1 paper

NM_022455.5

p.A1186A

c.3558C>G

1 paper

NM_022455.5

p.R1200fs

c.3598_3599fs

1 paper

NM_022455.5

p.R1200W

c.3598C>T