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.L676S

c.2027T>C

Surrounding Variants

4 papers

NM_022455.5

p.S677T

c.2029T>A

1 paper

NM_022455.5

p.S677P

c.2029T>C

1 paper

NM_022455.5

p.S677C

c.2030C>G

1 paper

NM_022455.5

p.M675ins14

c.2023_2024ins42

1 paper

NM_022455.5

p.M675fs

c.2023_2024fs

1 paper

NM_022455.5

p.S677S

c.2031T>G

1 paper

NM_022455.5

p.N674K

c.2022C>A

1 paper

NM_022455.5

p.N674K

c.2022C>G

1 paper

NM_022455.5

p.M675delFs

c.2023_2024delAT

1 paper

NM_022455.5

p.Q679*

c.2035C>T

2 papers

NM_022455.5

p.T672fs

c.2014_2015fs

1 paper

NM_022455.5

p.R671delFs

c.2011delA