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

1 paper

NM_023034.2

p.A834V

c.2501C>T

Surrounding Variants

1 paper

NM_023034.2

p.S842Y

c.2525C>A

1 paper

NM_023034.2

p.Y826C

c.2477A>G

1 paper

NM_023034.2

p.I846L

c.2536A>C

4 papers

NM_023034.2

p.M817R

c.2450T>G

1 paper

NM_023034.2

p.R815C

c.2443C>T

1 paper

NM_023034.2

p.F866L

c.2596T>C

1 paper

NM_023034.2

p.F866F

c.2598C>T

1 paper

NM_023034.2

p.F866L

c.2598C>G

1 paper

NM_023034.2

p.F866L

c.2598C>A

1 paper

NM_023034.2

p.D807fs

c.2419_2420fs

1 paper

NM_023034.2

p.E805K

c.2413G>A

1 paper

NM_023034.2

p.R793H

c.2378G>A