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

13 papers

NM_022455.5

p.A1036P

c.3106G>C

Surrounding Variants

1 paper

NM_022455.5

p.A1036T

c.3106G>A

1 paper

NM_022455.5

p.A1036V

c.3107C>T

1 paper

NM_022455.5

p.S1035*

c.3104C>A

1 paper

NM_022455.5

p.S1035*

c.3104C>G

1 paper

NM_022455.5

p.S1035L

c.3104C>T

1 paper

NM_022455.5

p.A1036A

c.3108C>T

1 paper

NM_022455.5

p.S1035insFs

c.3104_3105insC

1 paper

NM_022455.5

p.A1033A

c.3099T>C

1 paper

NM_022455.5

p.A1033V

c.3098C>T

1 paper

NM_022455.5

p.V1039I

c.3115G>A

1 paper

NM_022455.5

p.A1033S

c.3097G>T

2 papers

NM_022455.5

p.R1031Q

c.3092G>A