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.E1100D

c.3300A>T

Surrounding Variants

1 paper

NM_022455.5

p.E1100D

c.3300A>C

2 papers

NM_022455.5

p.S1099C

c.3295A>T

1 paper

NM_022455.5

p.D1103N

c.3307G>A

2 papers

NM_022455.5

p.T1098A

c.3292A>G

1 paper

NM_022455.5

p.L1097*

c.3290T>A

1 paper

NM_022455.5

p.L1097*

c.3290T>G

1 paper

NM_022455.5

p.T1098insFs

c.3292dupA

5 papers

NM_022455.5

p.H1104R

c.3311A>G

1 paper

NM_022455.5

p.F1105_S1106delFs

c.3315_3316delTT

1 paper

NM_022455.5

p.H1096N

c.3286C>A

4 papers

NM_022455.5

p.H1096Y

c.3286C>T

1 paper

NM_022455.5

p.S1106insFs

c.3317_3318insT