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.E1095insFs

c.3284_3285ins7

Surrounding Variants

1 paper

NM_001042424.3

p.E1095insFs

c.3283_3284ins8

1 paper

NM_001042424.3

p.E1095fs

c.3283_3284fs

1 paper

NM_001042424.3

p.L1096Q

c.3287T>A

1 paper

NM_001042424.3

p.L1096L

c.3288G>A

1 paper

NM_001042424.3

p.L1096L

c.3288G>C

1 paper

NM_001042424.3

p.I1097S

c.3290T>G

1 paper

NM_001042424.3

p.D1098N

c.3292G>A

1 paper

NM_001042424.3

p.D1098insFs

c.3292_3293ins13

1 paper

NM_001042424.3

p.D1098fs

c.3292_3293fs

110 papers

NM_001042424.3

p.E1099K

c.3295G>A

1 paper

NM_001042424.3

p.E1099*

c.3295G>T

4 papers

NM_001042424.3

p.E1091K

c.3271G>A