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

3 papers

NM_015355.4

p.R121*

c.361C>T

Surrounding Variants

1 paper

NM_015355.4

p.Y117*

c.351C>A

1 paper

NM_015355.4

p.Y117*

c.351C>G

1 paper

NM_015355.4

p.R124_T125delFs

c.372_375del4

1 paper

NM_015355.4

p.T125fs

c.373_374fs

2 papers

NM_015355.4

p.Y117fs

c.349_350fs

1 paper

NM_015355.4

p.N126fs

c.376_377fs

1 paper

NM_015355.4

p.T116_Y117delFs

c.348_351del4

1 paper

NM_015355.4

p.R113S

c.339A>C

1 paper

NM_015355.4

p.R113S

c.339A>T

1 paper

NM_015355.4

p.R113T

c.338G>C

2 papers

NM_015355.4

p.R129G

c.385A>G

1 paper

NM_015355.4

p.R129Splc

c.386+1G>A