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.G1004A

c.3011G>C

Surrounding Variants

1 paper

NM_023034.2

p.F1003L

c.3009T>G

1 paper

NM_023034.2

p.F1003L

c.3009T>A

1 paper

NM_023034.2

p.F1003L

c.3007T>C

1 paper

NM_023034.2

p.Q1013H

c.3039G>T

1 paper

NM_023034.2

p.Q1013H

c.3039G>C

1 paper

NM_023034.2

p.V1020I

c.3058G>A

1 paper

NM_023034.2

p.D1023N

c.3067G>A

1 paper

NM_023034.2

p.R1047C

c.3139C>T

1 paper

NM_023034.2

p.E1062A

c.3185A>C

1 paper

NM_023034.2

p.E1064K

c.3190G>A

1 paper

NM_023034.2

p.N1066fs

c.3196_3197fs

1 paper

NM_023034.2

p.N1066delFs

c.3197delT