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.E453del1

c.1357_1358delGAA

Surrounding Variants

2 papers

NM_022455.5

p.E453*

c.1357G>T

1 paper

NM_022455.5

p.M455insFs

c.1363_1364insA

3 papers

NM_022455.5

p.M455T

c.1364T>C

1 paper

NM_022455.5

p.F457_D459del3

c.1369_1376del9

2 papers

NM_022455.5

p.F457L

c.1369T>C

1 paper

NM_022455.5

p.S446A

c.1336T>G

1 paper

NM_022455.5

p.E458*

c.1372G>T

1 paper

NM_022455.5

p.P444H

c.1331C>A

1 paper

NM_022455.5

p.D459Y

c.1375G>T

1 paper

NM_022455.5

p.D459V

c.1376A>T

1 paper

NM_022455.5

p.D459D

c.1377C>T

1 paper

NM_022455.5

p.C442delFs

c.1325_1326delGT