Varaico: Literature-Extracted Genetic Variants

NSD3

167 papers

RefSeq Summary

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine resi...

Pfam Domains

PWWPaa 271–380UCSCPWWP domain

PHD-1st_NSDaa 697–746UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger 1

PHD_NSDaa 748–797UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger

PHDvar_NSDaa 799–852UCSCHistone-lysine N-methyltransferase NSD-like, variant PHD zinc finger

PWWPaa 961–1049UCSCPWWP domain

AWSaa 1104–1142UCSCAWS domain

Gene Aliases

HGNC Name

nuclear receptor binding SET domain protein 3

HGNC Previous Symbol

WHSC1L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_023034.2

p.T1232A

c.3694A>G

Surrounding Variants

1 paper

NM_023034.2

p.V1243A

c.3728T>C

1 paper

NM_023034.2

p.C1249Y

c.3746G>A

1 paper

NM_023034.2

p.G1276E

c.3827G>A

1 paper

NM_023034.2

p.R1190*

c.3568C>T

5 papers

NM_023034.2

p.E1181K

c.3541G>A

1 paper

NM_023034.2

p.S1290S

c.3870G>A

1 paper

NM_023034.2

p.A1293V

c.3878C>T

1 paper

NM_023034.2

p.N1302fs

c.3904_3905fs

1 paper

NM_023034.2

p.R1310*

c.3928C>T

1 paper

NM_023034.2

p.R1310Q

c.3929G>A

1 paper

NM_023034.2

p.K1311N

c.3933G>T

1 paper

NM_023034.2

p.K1311N

c.3933G>C