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

9 papers

NM_001042424.3

p.P1343delFs

c.4028delC

Surrounding Variants

2 papers

NM_001042424.3

p.K1340N

c.4020G>C

7 papers

NM_001042424.3

p.P1343insFs

c.4028dupC

2 papers

NM_001042424.3

p.K1340N

c.4020G>T

1 paper

NM_001042424.3

p.P1341delFs

c.4021_4022delCC

1 paper

NM_001042424.3

p.K1340R

c.4019A>G

3 papers

NM_001042424.3

p.P1341fs

c.4021_4022fs

3 papers

NM_001042424.3

p.K1340fs

c.4018_4019fs

1 paper

NM_001042424.3

p.K1340Q

c.4018A>C

1 paper

NM_001042424.3

p.E1339D

c.4017G>C

1 paper

NM_001042424.3

p.E1339D

c.4017G>T

3 papers

NM_001042424.3

p.P1342S

c.4024C>T

4 papers

NM_001042424.3

p.P1343fs

c.4027_4028fs