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.K608delFs

c.1822delA

Surrounding Variants

1 paper

NM_022455.5

p.K608fs

c.1822_1823fs

3 papers

NM_022455.5

p.Q610*

c.1828C>T

1 paper

NM_022455.5

p.Q610R

c.1829A>G

1 paper

NM_022455.5

p.R604R

c.1812A>T

4 papers

NM_022455.5

p.R611*

c.1831C>T

1 paper

NM_022455.5

p.R604Q

c.1811G>A

4 papers

NM_022455.5

p.R604L

c.1811G>T

15 papers

NM_022455.5

p.R604*

c.1810C>T

1 paper

NM_022455.5

p.R611Q

c.1832G>A

1 paper

NM_022455.5

p.S603fs

c.1807_1808fs

2 papers

NM_022455.5

p.C602Y

c.1805G>A

4 papers

NM_022455.5

p.S603delFs

c.1807delT