Varaico: Literature-Extracted Genetic Variants

NSD2

463 papers

RefSeq Summary

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in ear...

Pfam Domains

PWWPaa 223–334UCSCPWWP domain

HMG_boxaa 455–508UCSCHMG (high mobility group) box

PHD-1st_NSDaa 663–711UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger 1

PHD_NSDaa 713–762UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger

PHDvar_NSDaa 764–818UCSCHistone-lysine N-methyltransferase NSD-like, variant PHD zinc finger

PHDaa 834–872UCSCPHD-finger

Gene Aliases

HGNC Name

nuclear receptor binding SET domain protein 2

HGNC Previous Symbol

WHSC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042424.3

p.D538delFs

c.1614delT

Surrounding Variants

1 paper

NM_001042424.3

p.D538N

c.1612G>A

1 paper

NM_001042424.3

p.A541V

c.1622C>T

1 paper

NM_001042424.3

p.E542K

c.1624G>A

1 paper

NM_001042424.3

p.D543V

c.1628A>T

2 papers

NM_001042424.3

p.I532fs

c.1594_1595fs

1 paper

NM_001042424.3

p.P545H

c.1634C>A

1 paper

NM_001042424.3

p.R546K

c.1637G>A

1 paper

NM_001042424.3

p.K547E

c.1639A>G

2 papers

NM_001042424.3

p.K530insFs

c.1588_1589dupAA

1 paper

NM_001042424.3

p.T529P

c.1585A>C

2 papers

NM_001042424.3

p.H528Q

c.1584C>A

2 papers

NM_001042424.3

p.H528Q

c.1584C>G