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.T160I

c.479C>T

Surrounding Variants

1 paper

NM_023034.2

p.T158A

c.472A>G

1 paper

NM_023034.2

p.I157T

c.470T>C

1 paper

NM_023034.2

p.G164C

c.490G>T

1 paper

NM_023034.2

p.S170C

c.509C>G

1 paper

NM_023034.2

p.Q141E

c.421C>G

1 paper

NM_023034.2

p.P137A

c.409C>G

1 paper

NM_023034.2

p.S188L

c.563C>T

1 paper

NM_023034.2

p.K189R

c.566A>G

1 paper

NM_023034.2

p.E123Q

c.367G>C

1 paper

NM_023034.2

p.S200fs

c.598_599fs

1 paper

NM_023034.2

p.S200delFs

c.598delT

1 paper

NM_023034.2

p.P117L

c.350C>T