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.V836L

c.2506G>T

Surrounding Variants

1 paper

NM_001042424.3

p.V836L

c.2506G>C

1 paper

NM_001042424.3

p.F835L

c.2505C>A

1 paper

NM_001042424.3

p.C837F

c.2510G>T

1 paper

NM_001042424.3

p.C834S

c.2501G>C

1 paper

NM_001042424.3

p.C834S

c.2500T>A

10 papers

NM_001042424.3

p.G840Splc

c.2518+1G>A

1 paper

NM_001042424.3

p.G840Splc

c.2518+1G>T

1 paper

NM_001042424.3

p.V831M

c.2491G>A

1 paper

NM_001042424.3

p.H825Q

c.2475C>A

1 paper

NM_001042424.3

p.H825Q

c.2475C>G

2 papers

NM_001042424.3

p.R824*

c.2470C>T

1 paper

NM_001042424.3

p.K821N

c.2463G>C