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.R508C

c.1522C>T

Surrounding Variants

1 paper

NM_015355.4

p.D505H

c.1513G>C

1 paper

NM_015355.4

p.Q504E

c.1510C>G

1 paper

NM_015355.4

p.Y499C

c.1496A>G

1 paper

NM_015355.4

p.N517D

c.1549A>G

1 paper

NM_015355.4

p.S498F

c.1493C>T

1 paper

NM_015355.4

p.S498fs

c.1492_1493fs

1 paper

NM_015355.4

p.K521fs

c.1561_1562fs

1 paper

NM_015355.4

p.R522*

c.1564A>T

1 paper

NM_015355.4

p.E493*

c.1477G>T

1 paper

NM_015355.4

p.I525V

c.1573A>G

1 paper

NM_015355.4

p.I525I

c.1575C>A

1 paper

NM_015355.4

p.L529F

c.1585C>T