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.I1093_M1094insT

c.3277_3281ins3

Surrounding Variants

1 paper

NM_022455.5

p.M1094_L1097del4

c.3280_3290del12

1 paper

NM_022455.5

p.Q1092H

c.3276G>C

1 paper

NM_022455.5

p.Q1092H

c.3276G>T

1 paper

NM_022455.5

p.M1094insFs

c.3280_3281insA

1 paper

NM_022455.5

p.M1094fs

c.3280_3281fs

1 paper

NM_022455.5

p.M1094_L1097del0

c.3282_3290del9

1 paper

NM_022455.5

p.Q1092*

c.3274C>T

1 paper

NM_022455.5

p.M1094T

c.3281T>C

1 paper

NM_022455.5

p.G1095delFs

c.3284delG

1 paper

NM_022455.5

p.L1091R

c.3272T>G

3 papers

NM_022455.5

p.L1091I

c.3271C>A

3 papers

NM_022455.5

p.L1091delFs

c.3273delT