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.G1172E

c.3515G>A

Surrounding Variants

1 paper

NM_001042424.3

p.V1166I

c.3496G>A

1 paper

NM_001042424.3

p.D1158N

c.3472G>A

3 papers

NM_001042424.3

p.D1158fs

c.3472_3473fs

2 papers

NM_001042424.3

p.D1158insFs

c.3472dupG

1 paper

NM_001042424.3

p.T1154A

c.3460A>G

2 papers

NM_001042424.3

p.T1150S

c.3449C>G

36 papers

NM_001042424.3

p.T1150A

c.3448A>G

2 papers

NM_001042424.3

p.T1150S

c.3448A>T

1 paper

NM_001042424.3

p.P1146L

c.3437C>T

1 paper

NM_001042424.3

p.Q1145delFs

c.3434delA

1 paper

NM_001042424.3

p.S1143R

c.3429C>A

1 paper

NM_001042424.3

p.S1143R

c.3429C>G