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

2 papers

NM_022455.5

p.R1471Q

c.4412G>A

Surrounding Variants

5 papers

NM_022455.5

p.R1471G

c.4411C>G

7 papers

NM_022455.5

p.R1471*

c.4411C>T

13 papers

NM_022455.5

p.R1473*

c.4417C>T

2 papers

NM_022455.5

p.R1473Q

c.4418G>A

1 paper

NM_022455.5

p.P1468S

c.4402C>T

1 paper

NM_022455.5

p.K1467N

c.4401G>C

1 paper

NM_022455.5

p.K1467N

c.4401G>T

1 paper

NM_022455.5

p.D1466D

c.4398C>T

1 paper

NM_022455.5

p.D1466N

c.4396G>A

2 papers

NM_022455.5

p.F1465delFs

c.4395delT

1 paper

NM_022455.5

p.K1480E

c.4438A>G

1 paper

NM_022455.5

p.G1460G

c.4380C>T