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.E917G

c.2750A>G

Surrounding Variants

1 paper

NM_001042424.3

p.E917D

c.2751A>C

1 paper

NM_001042424.3

p.E917D

c.2751A>T

1 paper

NM_001042424.3

p.I915T

c.2744T>C

1 paper

NM_001042424.3

p.F922C

c.2765T>G

1 paper

NM_001042424.3

p.G924R

c.2770G>A

1 paper

NM_001042424.3

p.G924R

c.2770G>C

1 paper

NM_001042424.3

p.Q909*

c.2725C>T

1 paper

NM_001042424.3

p.N907delFs

c.2721delT

1 paper

NM_001042424.3

p.N907fs

c.2719_2720fs

2 papers

NM_001042424.3

p.N907fs

c.2719_2720fs

1 paper

NM_001042424.3

p.Y928S

c.2783A>C

3 papers

NM_001042424.3

p.P906L

c.2717C>T