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

4 papers

NM_015355.4

p.N716S

c.2147A>G

Surrounding Variants

1 paper

NM_015355.4

p.N716delFs

c.2148delC

1 paper

NM_015355.4

p.N716fs

c.2146_2147fs

1 paper

NM_015355.4

p.E714*

c.2140G>T

1 paper

NM_015355.4

p.T724_D725delFs

c.2172_2175del4

2 papers

NM_015355.4

p.D725fs

c.2173_2174fs

1 paper

NM_015355.4

p.D725fs

c.2173_2174fs

1 paper

NM_015355.4

p.G707R

c.2119G>A

1 paper

NM_015355.4

p.G707R

c.2119G>C

1 paper

NM_015355.4

p.S726G

c.2176A>G

2 papers

NM_015355.4

p.S726N

c.2177G>A

1 paper

NM_015355.4

p.V730fs

c.2188_2189fs

1 paper

NM_015355.4

p.I701_T702delFs

c.2103_2106del4