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.L153del1

c.457_459delTTG

Surrounding Variants

1 paper

NM_015355.4

p.L153F

c.459G>C

1 paper

NM_015355.4

p.L153F

c.459G>T

2 papers

NM_015355.4

p.S154*

c.461C>A

2 papers

NM_015355.4

p.S154*

c.461C>G

1 paper

NM_015355.4

p.T160M

c.479C>T

4 papers

NM_015355.4

p.G163D

c.488G>A

1 paper

NM_015355.4

p.G163V

c.488G>T

1 paper

NM_015355.4

p.H166fs

c.496_497fs

1 paper

NM_015355.4

p.H166R

c.497A>G

1 paper

NM_015355.4

p.N168N

c.504T>C

1 paper

NM_015355.4

p.D169Splc

c.506-1G>A

1 paper

NM_015355.4

p.S175_N177del3

c.523_530del9