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

20 papers

NM_022455.5

p.V614L

c.1840G>C

Surrounding Variants

1 paper

NM_022455.5

p.V614M

c.1840G>A

20 papers

NM_022455.5

p.V614L

c.1840G>T

1 paper

NM_022455.5

p.L613L

c.1839G>A

1 paper

NM_022455.5

p.V614V

c.1842G>A

4 papers

NM_022455.5

p.C615G

c.1843T>G

1 paper

NM_022455.5

p.C615*

c.1845T>A

1 paper

NM_022455.5

p.R611Q

c.1832G>A

4 papers

NM_022455.5

p.R611*

c.1831C>T

1 paper

NM_022455.5

p.K618delFs

c.1854delA

1 paper

NM_022455.5

p.Q610R

c.1829A>G

3 papers

NM_022455.5

p.K618E

c.1852A>G

3 papers

NM_022455.5

p.Q610*

c.1828C>T