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.L1163F

c.3489A>T

Surrounding Variants

1 paper

NM_022455.5

p.L1163F

c.3489A>C

1 paper

NM_022455.5

p.R1162H

c.3485G>A

1 paper

NM_022455.5

p.R1162C

c.3484C>T

1 paper

NM_022455.5

p.Q1161*

c.3481C>T

1 paper

NM_022455.5

p.W1160*

c.3480G>A

1 paper

NM_022455.5

p.R1167C

c.3499C>T

1 paper

NM_022455.5

p.W1160*

c.3479G>A

4 papers

NM_022455.5

p.R1167H

c.3500G>A

3 papers

NM_022455.5

p.R1159Q

c.3476G>A

1 paper

NM_022455.5

p.R1159W

c.3475C>T

1 paper

NM_022455.5

p.K1157T

c.3470A>C

1 paper

NM_022455.5

p.P1170H

c.3509C>A