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

1–12 of 174 variants

12 papers

NM_023034.2

p.T1232A

c.3694A>G

5 papers

NM_023034.2

p.E1181K

c.3541G>A

4 papers

NM_023034.2

p.M817R

c.2450T>G

3 papers

NM_023034.2

p.K919T

c.2756A>C

2 papers

NM_023034.2

p.R211H

c.632G>A

2 papers

NM_023034.2

p.S754L

c.2261C>T

2 papers

NM_023034.2

p.T1314P

c.3940A>C

1 paper

NM_023034.2

p.S4P

c.10T>C

1 paper

NM_023034.2

p.Q9*

c.25C>T

1 paper

NM_023034.2

p.G10E

c.29G>A

1 paper

NM_023034.2

p.I23L

c.67A>C

1 paper

NM_023034.2

p.S38R

c.114T>A