Varaico: Literature-Extracted Genetic Variants

NSD1

882 papers

RefSeq Summary

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein en...

Pfam Domains

PWWPaa 324–431UCSCPWWP domain

PHD-1st_NSDaa 1539–1587UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger 1

PHD_NSDaa 1589–1638UCSCHistone-lysine N-methyltransferase NSD-like, PHD zinc finger

Gene Aliases

HGNC Name

nuclear receptor binding SET domain protein 1

HGNC Previous Symbol

STO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022455.5

p.R1045fs

c.3133_3134fs

Surrounding Variants

3 papers

NM_022455.5

p.R1045C

c.3133C>T

1 paper

NM_022455.5

p.R1045H

c.3134G>A

1 paper

NM_022455.5

p.R1045P

c.3134G>C

1 paper

NM_022455.5

p.A1047_K1049delFs

c.3140_3147del8

1 paper

NM_022455.5

p.R1045delFs

c.3133delC

1 paper

NM_022455.5

p.K1046N

c.3138A>C

1 paper

NM_022455.5

p.K1046N

c.3138A>T

1 paper

NM_022455.5

p.V1043A

c.3128T>C

1 paper

NM_022455.5

p.A1047fs

c.3139_3140fs

4 papers

NM_022455.5

p.A1047delFs

c.3141delC

1 paper

NM_022455.5

p.A1047G

c.3140C>G

1 paper

NM_022455.5

p.T1042insFs

c.3125dupC