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.V1016I

c.3046G>A

Surrounding Variants

1 paper

NM_022455.5

p.V1016fs

c.3046_3047fs

1 paper

NM_022455.5

p.T1017A

c.3049A>G

1 paper

NM_022455.5

p.T1017S

c.3049A>T

1 paper

NM_022455.5

p.T1017T

c.3051T>C

1 paper

NM_022455.5

p.R1018K

c.3053G>A

1 paper

NM_022455.5

p.S1013*

c.3038C>G

1 paper

NM_022455.5

p.S1013L

c.3038C>T

1 paper

NM_022455.5

p.R1019G

c.3055C>G

3 papers

NM_022455.5

p.R1019H

c.3056G>A

3 papers

NM_022455.5

p.R1012H

c.3035G>A

1 paper

NM_022455.5

p.R1012C

c.3034C>T

1 paper

NM_022455.5

p.N1020S

c.3059A>G