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.F2018L

c.6052T>C

Surrounding Variants

1 paper

NM_022455.5

p.F2018fs

c.6052_6053fs

2 papers

NM_022455.5

p.F2018L

c.6054C>A

2 papers

NM_022455.5

p.F2018L

c.6054C>G

13 papers

NM_022455.5

p.R2017Q

c.6050G>A

1 paper

NM_022455.5

p.R2017L

c.6050G>T

13 papers

NM_022455.5

p.R2017W

c.6049C>T

1 paper

NM_022455.5

p.N2020Y

c.6058A>T

1 paper

NM_022455.5

p.N2020insFs

c.6060dupT

3 papers

NM_022455.5

p.N2020S

c.6059A>G

1 paper

NM_022455.5

p.Y2015Y

c.6045T>C

1 paper

NM_022455.5

p.A2016_R2017insFs

c.6047_6050dup4

1 paper

NM_022455.5

p.H2021Y

c.6061C>T