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.Q700_K701delFs

c.2100_2101delGA

Surrounding Variants

1 paper

NM_022455.5

p.K701K

c.2103G>A

1 paper

NM_022455.5

p.V696A

c.2087T>C

1 paper

NM_022455.5

p.N706D

c.2116A>G

1 paper

NM_022455.5

p.T694fs

c.2080_2081fs

1 paper

NM_022455.5

p.N706I

c.2117A>T

4 papers

NM_022455.5

p.N693S

c.2078A>G

1 paper

NM_022455.5

p.S707_H708del2

c.2119_2123del6

1 paper

NM_022455.5

p.S707*

c.2120C>A

1 paper

NM_022455.5

p.S707*

c.2120C>G

1 paper

NM_022455.5

p.T709A

c.2125A>G

11 papers

NM_022455.5

p.A691T

c.2071G>A

1 paper

NM_022455.5

p.F689F

c.2067T>C