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.S580S

c.1740G>T

Surrounding Variants

1 paper

NM_001042424.3

p.L581H

c.1742T>A

1 paper

NM_001042424.3

p.A578G

c.1733C>G

1 paper

NM_001042424.3

p.A578T

c.1732G>A

1 paper

NM_001042424.3

p.T569P

c.1705A>C

1 paper

NM_001042424.3

p.T566M

c.1697C>T

1 paper

NM_001042424.3

p.T561S

c.1681A>T

4 papers

NM_001042424.3

p.D560fs

c.1678_1679fs

2 papers

NM_001042424.3

p.R559fs

c.1675_1676fs

6 papers

NM_001042424.3

p.R559fs

c.1675_1676fs

2 papers

NM_001042424.3

p.D560delFs

c.1678_1679delGA

7 papers

NM_001042424.3

p.R559_D560delFs

c.1676_1679del4

1 paper

NM_001042424.3

p.K558_R559Splc

c.1675-10T>A