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

2 papers

NM_022455.5

p.S817F

c.2450C>T

Surrounding Variants

1 paper

NM_022455.5

p.D818N

c.2452G>A

1 paper

NM_022455.5

p.S816F

c.2447C>T

1 paper

NM_022455.5

p.T819I

c.2456C>T

1 paper

NM_022455.5

p.C815R

c.2443T>C

1 paper

NM_022455.5

p.K820_L824delFs

c.2460_2472del13

1 paper

NM_022455.5

p.S822_P823delFs

c.2464_2467del4

1 paper

NM_022455.5

p.S822fs

c.2464_2465fs

2 papers

NM_022455.5

p.S822Y

c.2465C>A

3 papers

NM_022455.5

p.S822C

c.2465C>G

1 paper

NM_022455.5

p.L812*

c.2435T>A

1 paper

NM_022455.5

p.K813insFs

c.2437_2438ins4

1 paper

NM_022455.5

p.L812delFs

c.2435delT