Varaico: Literature-Extracted Genetic Variants

SUZ12

375 papers

RefSeq Summary

This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion ...

Pfam Domains

Zn_SUZ12aa 402–471UCSCPolycomb protein SUZ12-like, Zn domain

VEFS-Boxaa 530–651UCSCVEFS-Box of polycomb protein

Gene Aliases

HGNC Name

SUZ12 polycomb repressive complex 2 subunit

HGNC Alias Symbols

JJAZ1; KIAA0160; CHET9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_015355.4

p.S59del1

c.175_177delTCC

Surrounding Variants

1 paper

NM_015355.4

p.A54T

c.160G>A

1 paper

NM_015355.4

p.S59ins0

c.175_177dupTCC

1 paper

NM_015355.4

p.S53*

c.158C>A

1 paper

NM_015355.4

p.S55T

c.163T>A

1 paper

NM_015355.4

p.Y52*

c.156C>A

1 paper

NM_015355.4

p.Y52*

c.156C>G

1 paper

NM_015355.4

p.G50D

c.149G>A

1 paper

NM_015355.4

p.S58S

c.174C>A

1 paper

NM_015355.4

p.A60V

c.179C>T

1 paper

NM_015355.4

p.A61V

c.182C>T

2 papers

NM_015355.4

p.S45G

c.133A>G

1 paper

NM_015355.4

p.A63V

c.188C>T