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.M657delFs

c.1970delT

Surrounding Variants

1 paper

NM_015355.4

p.M657fs

c.1969_1970fs

2 papers

NM_015355.4

p.R654Q

c.1961G>A

9 papers

NM_015355.4

p.R654*

c.1960C>T

1 paper

NM_015355.4

p.L660P

c.1979T>C

1 paper

NM_015355.4

p.L652delFs

c.1956delA

1 paper

NM_015355.4

p.S662R

c.1984A>C

1 paper

NM_015355.4

p.N651I

c.1952A>T

1 paper

NM_015355.4

p.S662R

c.1986C>A

2 papers

NM_015355.4

p.M663insFs

c.1987dupA

1 paper

NM_015355.4

p.S662R

c.1986C>G

2 papers

NM_015355.4

p.M663fs

c.1987_1988fs

1 paper

NM_015355.4

p.D665_F666insFs

c.1995_1996insC