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

1–12 of 484 variants

9 papers

NM_015355.4

p.R654*

c.1960C>T

7 papers

NM_015355.4

p.E610V

c.1829A>T

5 papers

NM_015355.4

p.R101*

c.301C>T

5 papers

NM_015355.4

p.R286*

c.856C>T

5 papers

NM_015355.4

p.Q599H

c.1797A>C

5 papers

NM_015355.4

p.Q599H

c.1797A>T

4 papers

NM_015355.4

p.S59del1

c.175_177delTCC

4 papers

NM_015355.4

p.G163D

c.488G>A

4 papers

NM_015355.4

p.N226S

c.677A>G

4 papers

NM_015355.4

p.A282fs

c.844_845fs

4 papers

NM_015355.4

p.Q431*

c.1291C>T

4 papers

NM_015355.4

p.G484fs

c.1450_1451fs