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.S20A

c.58T>G

Surrounding Variants

1 paper

NM_015355.4

p.G19R

c.55G>A

1 paper

NM_015355.4

p.G19R

c.55G>C

1 paper

NM_015355.4

p.G22fs

c.64_65fs

1 paper

NM_015355.4

p.G24insFs

c.70_71ins10

1 paper

NM_015355.4

p.G27insFs

c.79dupG

1 paper

NM_015355.4

p.G27delFs

c.80delG

1 paper

NM_015355.4

p.G13D

c.38G>A

1 paper

NM_015355.4

p.G13C

c.37G>T

2 papers

NM_015355.4

p.G27D

c.80G>A

2 papers

NM_015355.4

p.G12D

c.35G>A

1 paper

NM_015355.4

p.G12V

c.35G>T

1 paper

NM_015355.4

p.S28del1

c.82_83delTCG