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

7 papers

NM_015355.4

p.E610V

c.1829A>T

Surrounding Variants

1 paper

NM_015355.4

p.E610G

c.1829A>G

1 paper

NM_015355.4

p.E610*

c.1828G>T

1 paper

NM_015355.4

p.K611delFs

c.1832_1833delAA

1 paper

NM_015355.4

p.E610fs

c.1828_1829fs

1 paper

NM_015355.4

p.K611fs

c.1831_1832fs

2 papers

NM_015355.4

p.G609E

c.1826G>A

1 paper

NM_015355.4

p.G609R

c.1825G>A

1 paper

NM_015355.4

p.G609R

c.1825G>C

1 paper

NM_015355.4

p.G609insFs

c.1826dupG

1 paper

NM_015355.4

p.N607K

c.1821T>A

1 paper

NM_015355.4

p.N607K

c.1821T>G

1 paper

NM_015355.4

p.D605E

c.1815T>A