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.K1125E

c.3373A>G

Surrounding Variants

2 papers

NM_022455.5

p.S1128delFs

c.3383_3384delCT

1 paper

NM_022455.5

p.S1123F

c.3368C>T

3 papers

NM_022455.5

p.I1122fs

c.3364_3365fs

1 paper

NM_022455.5

p.I1122insFs

c.3365dupT

1 paper

NM_022455.5

p.S1128delFs

c.3383delC

1 paper

NM_022455.5

p.S1128fs

c.3382_3383fs

1 paper

NM_022455.5

p.F1129fs

c.3385_3386fs

2 papers

NM_022455.5

p.I1122insFs

c.3364dupA

4 papers

NM_022455.5

p.E1130G

c.3389A>G

2 papers

NM_022455.5

p.P1119delFs

c.3355delC

1 paper

NM_022455.5

p.N1131N

c.3393C>T

2 papers

NM_022455.5

p.G1132R

c.3394G>A