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.L991F

c.2973G>T

Surrounding Variants

1 paper

NM_022455.5

p.L991F

c.2973G>C

2 papers

NM_022455.5

p.E990D

c.2970G>C

1 paper

NM_022455.5

p.E990D

c.2970G>T

1 paper

NM_022455.5

p.S992S

c.2976T>A

1 paper

NM_022455.5

p.E990K

c.2968G>A

1 paper

NM_022455.5

p.E990*

c.2968G>T

1 paper

NM_022455.5

p.G989G

c.2967C>T

1 paper

NM_022455.5

p.S994S

c.2982C>G

1 paper

NM_022455.5

p.A986fs

c.2956_2957fs

1 paper

NM_022455.5

p.G997G

c.2991C>T

1 paper

NM_022455.5

p.A986insFs

c.2956dupG

1 paper

NM_022455.5

p.S985C

c.2954C>G