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.R1126H

c.3377G>A

Surrounding Variants

2 papers

NM_001042424.3

p.R1126C

c.3376C>T

1 paper

NM_001042424.3

p.I1127insFs

c.3380dupT

4 papers

NM_001042424.3

p.D1125N

c.3373G>A

1 paper

NM_001042424.3

p.D1125H

c.3373G>C

1 paper

NM_001042424.3

p.A1130T

c.3388G>A

1 paper

NM_001042424.3

p.P1132R

c.3395C>G

1 paper

NM_001042424.3

p.S1137_R1138delFs

c.3411_3412delTC

8 papers

NM_001042424.3

p.S1137F

c.3410C>T

1 paper

NM_001042424.3

p.R1138G

c.3412C>G

9 papers

NM_001042424.3

p.R1138*

c.3412C>T

1 paper

NM_001042424.3

p.R1138fs

c.3412_3413fs

1 paper

NM_001042424.3

p.R1138Q

c.3413G>A