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.I200insFs

c.600dupT

Surrounding Variants

2 papers

NM_001042424.3

p.K199_I200Splc

c.598-1G>C

1 paper

NM_001042424.3

p.C207Y

c.620G>A

1 paper

NM_001042424.3

p.T210A

c.628A>G

1 paper

NM_001042424.3

p.T210delFs

c.629_630delCT

1 paper

NM_001042424.3

p.K214insFs

c.642dupA

1 paper

NM_001042424.3

p.D215fs

c.643_644fs

1 paper

NM_001042424.3

p.L217P

c.650T>C

1 paper

NM_001042424.3

p.Y220delFs

c.658delT

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.N221S

c.662A>G

1 paper

NM_001042424.3

p.S231*

c.692C>A