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.N1235S

c.3704A>G

Surrounding Variants

6 papers

NM_022455.5

p.N1235N

c.3705T>C

3 papers

NM_022455.5

p.R1233Q

c.3698G>A

3 papers

NM_022455.5

p.R1233W

c.3697C>T

1 paper

NM_022455.5

p.P1232P

c.3696A>G

1 paper

NM_022455.5

p.D1238fs

c.3712_3713fs

3 papers

NM_022455.5

p.K1239_S1240delFs

c.3715_3718del4

1 paper

NM_022455.5

p.K1239fs

c.3715_3716fs

2 papers

NM_022455.5

p.G1231E

c.3692G>A

1 paper

NM_022455.5

p.S1229*

c.3686C>A

1 paper

NM_022455.5

p.S1229*

c.3686C>G

2 papers

NM_022455.5

p.S1229L

c.3686C>T

7 papers

NM_022455.5

p.S1241T

c.3722G>C