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.C813Y

c.2438G>A

Surrounding Variants

2 papers

NM_001042424.3

p.A807T

c.2419G>A

1 paper

NM_001042424.3

p.R820W

c.2458C>T

1 paper

NM_001042424.3

p.R820Q

c.2459G>A

1 paper

NM_001042424.3

p.K821N

c.2463G>C

1 paper

NM_001042424.3

p.K821N

c.2463G>T

2 papers

NM_001042424.3

p.R824*

c.2470C>T

1 paper

NM_001042424.3

p.H825Q

c.2475C>A

1 paper

NM_001042424.3

p.H825Q

c.2475C>G

1 paper

NM_001042424.3

p.C798fs

c.2392_2393fs

1 paper

NM_001042424.3

p.V831M

c.2491G>A

1 paper

NM_001042424.3

p.G795E

c.2384G>A

3 papers

NM_001042424.3

p.G795R

c.2383G>A