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.D605E

c.1815T>A

Surrounding Variants

1 paper

NM_015355.4

p.D605E

c.1815T>G

2 papers

NM_015355.4

p.D605V

c.1814A>T

1 paper

NM_015355.4

p.D605Y

c.1813G>T

4 papers

NM_015355.4

p.F603L

c.1809T>A

1 paper

NM_015355.4

p.N607K

c.1821T>A

4 papers

NM_015355.4

p.F603L

c.1809T>G

1 paper

NM_015355.4

p.N607K

c.1821T>G

4 papers

NM_015355.4

p.F603L

c.1807T>C

1 paper

NM_015355.4

p.G609insFs

c.1826dupG

1 paper

NM_015355.4

p.G609R

c.1825G>A

1 paper

NM_015355.4

p.G609R

c.1825G>C

2 papers

NM_015355.4

p.G609E

c.1826G>A