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.P74S

c.220C>T

Surrounding Variants

1 paper

NM_015355.4

p.P74L

c.221C>T

1 paper

NM_015355.4

p.K73R

c.218A>G

1 paper

NM_015355.4

p.K75R

c.224A>G

1 paper

NM_015355.4

p.K72R

c.215A>G

3 papers

NM_015355.4

p.V71M

c.211G>A

1 paper

NM_015355.4

p.V71fs

c.211_212fs

1 paper

NM_015355.4

p.P70Q

c.209C>A

1 paper

NM_015355.4

p.P70_V71ins10

c.208_212ins30

1 paper

NM_015355.4

p.P70fs

c.208_209fs

1 paper

NM_015355.4

p.L69insFs

c.206_207insA

1 paper

NM_015355.4

p.V68A

c.203T>C

1 paper

NM_015355.4

p.V68G

c.203T>G