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.E272K

c.814G>A

Surrounding Variants

2 papers

NM_015355.4

p.E272*

c.814G>T

1 paper

NM_015355.4

p.N273fs

c.817_818fs

1 paper

NM_015355.4

p.T270insFs

c.810dupC

1 paper

NM_015355.4

p.I274V

c.820A>G

1 paper

NM_015355.4

p.T270del1

c.808_809delACC

1 paper

NM_015355.4

p.I274T

c.821T>C

1 paper

NM_015355.4

p.E269K

c.805G>A

3 papers

NM_015355.4

p.D275Splc

c.823+1G>T

1 paper

NM_015355.4

p.G268E

c.803G>A

1 paper

NM_015355.4

p.I266fs

c.796_797fs

1 paper

NM_015355.4

p.M265I

c.795G>A

1 paper

NM_015355.4

p.M265I

c.795G>C