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

1 paper

NM_015355.4

p.I600T

c.1799T>C

Surrounding Variants

1 paper

NM_015355.4

p.I600N

c.1799T>A

1 paper

NM_015355.4

p.I600S

c.1799T>G

5 papers

NM_015355.4

p.Q599H

c.1797A>C

5 papers

NM_015355.4

p.Q599H

c.1797A>T

1 paper

NM_015355.4

p.E601_E602ins7

c.1801_1805ins21

1 paper

NM_015355.4

p.Q599*

c.1795C>T

1 paper

NM_015355.4

p.T598_Q599Splc

c.1795-1G>A

4 papers

NM_015355.4

p.F603L

c.1807T>C

4 papers

NM_015355.4

p.F603L

c.1809T>A

4 papers

NM_015355.4

p.F603L

c.1809T>G

1 paper

NM_015355.4

p.D605Y

c.1813G>T

2 papers

NM_015355.4

p.D605V

c.1814A>T