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

2 papers

NM_015355.4

p.F626delFs

c.1878delT

Surrounding Variants

2 papers

NM_015355.4

p.F626fs

c.1876_1877fs

3 papers

NM_015355.4

p.F626fs

c.1876_1877fs

1 paper

NM_015355.4

p.I627S

c.1880T>G

1 paper

NM_015355.4

p.Q631*

c.1891C>T

1 paper

NM_015355.4

p.A635S

c.1903G>T

1 paper

NM_015355.4

p.L638M

c.1912C>A

1 paper

NM_015355.4

p.F639L

c.1915T>C

1 paper

NM_015355.4

p.F639S

c.1916T>C

1 paper

NM_015355.4

p.F639L

c.1917T>A

1 paper

NM_015355.4

p.F639L

c.1917T>G

1 paper

NM_015355.4

p.V640I

c.1918G>A

1 paper

NM_015355.4

p.N642K

c.1926T>A