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.P900fs

c.2698_2699fs

Surrounding Variants

2 papers

NM_022455.5

p.P900delFs

c.2699delC

2 papers

NM_022455.5

p.P900L

c.2699C>T

2 papers

NM_022455.5

p.I899T

c.2696T>C

1 paper

NM_022455.5

p.I901insFs

c.2701dupA

1 paper

NM_022455.5

p.N897S

c.2690A>G

1 paper

NM_022455.5

p.P903L

c.2708C>T

3 papers

NM_022455.5

p.Q896*

c.2686C>T

1 paper

NM_022455.5

p.S895R

c.2685T>A

1 paper

NM_022455.5

p.S895R

c.2685T>G

1 paper

NM_022455.5

p.S895R

c.2683A>C

1 paper

NM_022455.5

p.S894C

c.2681C>G

1 paper

NM_022455.5

p.F907L

c.2719T>C