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

4 papers

NM_022455.5

p.E866*

c.2596G>T

Surrounding Variants

1 paper

NM_022455.5

p.E866Q

c.2596G>C

1 paper

NM_022455.5

p.S868delFs

c.2603_2604delCT

1 paper

NM_022455.5

p.L867L

c.2601C>A

1 paper

NM_022455.5

p.S868insFs

c.2602dupT

1 paper

NM_022455.5

p.L864delFs

c.2592delG

1 paper

NM_022455.5

p.L864_L867Fs

c.2591_2599delinsGTAAGGAFs

1 paper

NM_022455.5

p.E863*

c.2587G>T

1 paper

NM_022455.5

p.Y869fs

c.2605_2606fs

1 paper

NM_022455.5

p.S862S

c.2586C>T

1 paper

NM_022455.5

p.R870insFs

c.2608_2609insA

1 paper

NM_022455.5

p.R870G

c.2608A>G

1 paper

NM_022455.5

p.R870fs

c.2608_2609fs