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.I648_K649Fs

c.1944_1945delinsCFs

Surrounding Variants

1 paper

NM_015355.4

p.K646N

c.1938A>C

1 paper

NM_015355.4

p.K646N

c.1938A>T

1 paper

NM_015355.4

p.N651I

c.1952A>T

1 paper

NM_015355.4

p.L652delFs

c.1956delA

3 papers

NM_015355.4

p.G644E

c.1931G>A

1 paper

NM_015355.4

p.G644*

c.1930G>T

9 papers

NM_015355.4

p.R654*

c.1960C>T

2 papers

NM_015355.4

p.R654Q

c.1961G>A

1 paper

NM_015355.4

p.N642K

c.1926T>A

1 paper

NM_015355.4

p.N642K

c.1926T>G

1 paper

NM_015355.4

p.M657delFs

c.1970delT

1 paper

NM_015355.4

p.M657fs

c.1969_1970fs