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.H193Q

c.579C>G

Surrounding Variants

1 paper

NM_015355.4

p.H193Q

c.579C>A

1 paper

NM_015355.4

p.H193insFs

c.578dupA

1 paper

NM_015355.4

p.H193fs

c.577_578fs

2 papers

NM_015355.4

p.R196fs

c.586_587fs

1 paper

NM_015355.4

p.E178*

c.532G>T

1 paper

NM_015355.4

p.S175T

c.523T>A

1 paper

NM_015355.4

p.S175_N177del3

c.523_530del9

1 paper

NM_015355.4

p.D169Splc

c.506-1G>A

1 paper

NM_015355.4

p.K197_D198Splc

c.592-2A>C

1 paper

NM_015355.4

p.V199insFs

c.596dupT

1 paper

NM_015355.4

p.S200fs

c.598_599fs

1 paper

NM_015355.4

p.C201insFs

c.601_602ins7