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

6 papers

NM_001042424.3

p.W236*

c.707G>A

Surrounding Variants

6 papers

NM_001042424.3

p.W236*

c.708G>A

1 paper

NM_001042424.3

p.S231*

c.692C>A

1 paper

NM_001042424.3

p.S231L

c.692C>T

1 paper

NM_001042424.3

p.A242S

c.724G>T

1 paper

NM_001042424.3

p.L245F

c.733C>T

1 paper

NM_001042424.3

p.L246P

c.737T>C

1 paper

NM_001042424.3

p.N221S

c.662A>G

4 papers

NM_001042424.3

p.Y220*

c.660C>A

4 papers

NM_001042424.3

p.Y220*

c.660C>G

1 paper

NM_001042424.3

p.K253E

c.757A>G

1 paper

NM_001042424.3

p.Y220delFs

c.658delT

1 paper

NM_001042424.3

p.L217P

c.650T>C