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

1–12 of 589 variants

110 papers

NM_001042424.3

p.E1099K

c.3295G>A

36 papers

NM_001042424.3

p.T1150A

c.3448A>G

10 papers

NM_001042424.3

p.G840Splc

c.2518+1G>A

9 papers

NM_001042424.3

p.R1138*

c.3412C>T

9 papers

NM_001042424.3

p.P1343delFs

c.4028delC

9 papers

NM_001042424.3

p.E1344fs

c.4030_4031fs

8 papers

NM_001042424.3

p.R935*

c.2803C>T

8 papers

NM_001042424.3

p.S1137F

c.3410C>T

7 papers

NM_001042424.3

p.H528N

c.1582C>A

7 papers

NM_001042424.3

p.R559_D560delFs

c.1676_1679del4

7 papers

NM_001042424.3

p.P1343insFs

c.4028dupC

6 papers

NM_001042424.3

p.W236*

c.707G>A