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

13 papers

NM_022455.5

p.R788*

c.2362C>T

Surrounding Variants

2 papers

NM_022455.5

p.R788delFs

c.2363delG

1 paper

NM_022455.5

p.F787L

c.2361C>A

1 paper

NM_022455.5

p.F787L

c.2361C>G

2 papers

NM_022455.5

p.R788Q

c.2363G>A

1 paper

NM_022455.5

p.F787L

c.2359T>C

1 paper

NM_022455.5

p.I790delFs

c.2370delA

1 paper

NM_022455.5

p.I790M

c.2370A>G

1 paper

NM_022455.5

p.K791fs

c.2371_2372fs

1 paper

NM_172349.5

p.P494delFs

c.1480delC

1 paper

NM_022455.5

p.Q784E

c.2350C>G

3 papers

NM_022455.5

p.Q784*

c.2350C>T

1 paper

NM_022455.5

p.C792*

c.2376C>A