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

1–12 of 2941 variants

26 papers

NM_022455.5

p.S726P

c.2176T>C

20 papers

NM_022455.5

p.V614L

c.1840G>C

20 papers

NM_022455.5

p.V614L

c.1840G>T

16 papers

NM_022455.5

p.R1984Q

c.5951G>A

15 papers

NM_022455.5

p.R604*

c.1810C>T

14 papers

NM_022455.5

p.S299delFs

c.896delC

14 papers

NM_022455.5

p.Y1997C

c.5990A>G

13 papers

NM_022455.5

p.R788*

c.2362C>T

13 papers

NM_022455.5

p.A1036P

c.3106G>C

13 papers

NM_022455.5

p.R1473*

c.4417C>T

13 papers

NM_022455.5

p.R2017W

c.6049C>T

13 papers

NM_022455.5

p.R2017Q

c.6050G>A