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.S1112delFs

c.3334delA

Surrounding Variants

1 paper

NM_022455.5

p.S1112fs

c.3334_3335fs

1 paper

NM_022455.5

p.D1111N

c.3331G>A

1 paper

NM_022455.5

p.D1111Y

c.3331G>T

2 papers

NM_022455.5

p.F1110F

c.3330C>T

1 paper

NM_022455.5

p.V1114A

c.3341T>C

1 paper

NM_022455.5

p.K1115delFs

c.3344delA

1 paper

NM_022455.5

p.K1115E

c.3343A>G

1 paper

NM_022455.5

p.D1107V

c.3320A>T

1 paper

NM_022455.5

p.S1106insFs

c.3317_3318insT

1 paper

NM_022455.5

p.S1117C

c.3350C>G

2 papers

NM_022455.5

p.P1119delFs

c.3355delC

5 papers

NM_022455.5

p.H1104R

c.3311A>G