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.R204insFs

c.610dupA

Surrounding Variants

1 paper

NM_015355.4

p.C201insFs

c.601_602ins7

1 paper

NM_015355.4

p.C201fs

c.601_602fs

1 paper

NM_015355.4

p.V206_P207insA

c.616_620ins3

1 paper

NM_015355.4

p.S200fs

c.598_599fs

1 paper

NM_015355.4

p.V199insFs

c.596dupT

1 paper

NM_015355.4

p.K197_D198Splc

c.592-2A>C

1 paper

NM_015355.4

p.Q212*

c.634C>T

1 paper

NM_015355.4

p.P214A

c.640C>G

1 paper

NM_015355.4

p.N216H

c.646A>C

1 paper

NM_015355.4

p.T222fs

c.664_665fs

1 paper

NM_015355.4

p.T222delFs

c.666delA

1 paper

NM_015355.4

p.K223E

c.667A>G