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.K512R

c.1535A>G

Surrounding Variants

9 papers

NM_022455.5

p.K513R

c.1538A>G

2 papers

NM_022455.5

p.K513K

c.1539G>A

1 paper

NM_022455.5

p.V511L

c.1531G>C

1 paper

NM_022455.5

p.V511L

c.1531G>T

1 paper

NM_022455.5

p.G514D

c.1541G>A

1 paper

NM_022455.5

p.S510G

c.1528A>G

1 paper

NM_022455.5

p.S510fs

c.1528_1529fs

1 paper

NM_022455.5

p.H515R

c.1544A>G

1 paper

NM_022455.5

p.T509delFs

c.1527delT

1 paper

NM_022455.5

p.I516V

c.1546A>G

1 paper

NM_022455.5

p.K507N

c.1521A>C

1 paper

NM_022455.5

p.K507N

c.1521A>T