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.Q236H

c.708G>T

Surrounding Variants

2 papers

NM_022455.5

p.Q236H

c.708G>C

1 paper

NM_022455.5

p.Q236fs

c.706_707fs

1 paper

NM_022455.5

p.Q236delFs

c.707_708delAG

1 paper

NM_022455.5

p.Q236fs

c.706_707fs

1 paper

NM_022455.5

p.R241G

c.721A>G

1 paper

NM_022455.5

p.R241I

c.722G>T

1 paper

NM_022455.5

p.P231P

c.693T>A

1 paper

NM_022455.5

p.E243*

c.727G>T

1 paper

NM_022455.5

p.P228P

c.684A>G

3 papers

NM_022455.5

p.P228A

c.682C>G

1 paper

NM_022455.5

p.D245D

c.735C>T

1 paper

NM_022455.5

p.G246V

c.737G>T