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.R1173C

c.3517C>T

Surrounding Variants

2 papers

NM_022455.5

p.R1173H

c.3518G>A

1 paper

NM_022455.5

p.M1174_R1176del3

c.3520_3527del9

1 paper

NM_022455.5

p.K1172_R1173del2

c.3514_3518del6

1 paper

NM_022455.5

p.R1171H

c.3512G>A

1 paper

NM_022455.5

p.R1171C

c.3511C>T

1 paper

NM_022455.5

p.P1170H

c.3509C>A

1 paper

NM_022455.5

p.P1170L

c.3509C>T

1 paper

NM_022455.5

p.F1177delFs

c.3531delT

1 paper

NM_022455.5

p.F1177del1

c.3529_3530delTTT

1 paper

NM_022455.5

p.F1177_E1179del0

c.3530_3535del6

4 papers

NM_022455.5

p.R1167H

c.3500G>A

1 paper

NM_022455.5

p.R1167C

c.3499C>T