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.S114L

c.341C>T

Surrounding Variants

1 paper

NM_023034.2

p.P117L

c.350C>T

1 paper

NM_023034.2

p.E123Q

c.367G>C

1 paper

NM_023034.2

p.A102insFs

c.304_305insCC

1 paper

NM_023034.2

p.S96L

c.287C>T

1 paper

NM_023034.2

p.P137A

c.409C>G

1 paper

NM_023034.2

p.S88L

c.263C>T

1 paper

NM_023034.2

p.Q141E

c.421C>G

1 paper

NM_023034.2

p.Q83Q

c.249A>G

1 paper

NM_023034.2

p.I157T

c.470T>C

1 paper

NM_023034.2

p.T158A

c.472A>G

1 paper

NM_023034.2

p.T160I

c.479C>T

1 paper

NM_023034.2

p.L66F

c.196C>T