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.E1220fs

c.3658_3659fs

Surrounding Variants

1 paper

NM_022455.5

p.T1219T

c.3657A>G

1 paper

NM_022455.5

p.E1220delFs

c.3659_3660delAG

1 paper

NM_022455.5

p.T1219A

c.3655A>G

1 paper

NM_022455.5

p.Q1221*

c.3661C>T

1 paper

NM_022455.5

p.T1219delFs

c.3656_3657delCA

1 paper

NM_022455.5

p.L1218Q

c.3653T>A

1 paper

NM_022455.5

p.P1217T

c.3649C>A

1 paper

NM_022455.5

p.P1217S

c.3649C>T

1 paper

NM_022455.5

p.E1216delFs

c.3648delA

1 paper

NM_022455.5

p.C1226R

c.3676T>C

1 paper

NM_022455.5

p.L1227*

c.3680T>A

2 papers

NM_022455.5

p.L1227*

c.3680T>G