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

26 papers

NM_022455.5

p.S726P

c.2176T>C

Surrounding Variants

1 paper

NM_022455.5

p.S726A

c.2176T>G

1 paper

NM_022455.5

p.T725T

c.2175G>A

2 papers

NM_022455.5

p.T725M

c.2174C>T

1 paper

NM_022455.5

p.Q727*

c.2179C>T

1 paper

NM_022455.5

p.Q727L

c.2180A>T

1 paper

NM_022455.5

p.Q727H

c.2181G>C

1 paper

NM_022455.5

p.Q727H

c.2181G>T

7 papers

NM_022455.5

p.E724K

c.2170G>A

1 paper

NM_022455.5

p.T723T

c.2169C>T

1 paper

NM_022455.5

p.T723insFs

c.2168_2169insA

2 papers

NM_022455.5

p.T723S

c.2168C>G

1 paper

NM_022455.5

p.N729D

c.2185A>G