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.K293delFs

c.878delA

Surrounding Variants

1 paper

NM_015355.4

p.E292Q

c.874G>C

1 paper

NM_015355.4

p.K293fs

c.877_878fs

1 paper

NM_015355.4

p.K293N

c.879G>C

1 paper

NM_015355.4

p.K293N

c.879G>T

1 paper

NM_015355.4

p.F295S

c.884T>C

1 paper

NM_015355.4

p.R288C

c.862C>T

1 paper

NM_015355.4

p.V296I

c.886G>A

5 papers

NM_015355.4

p.R286*

c.856C>T

1 paper

NM_015355.4

p.R283T

c.848G>C

4 papers

NM_015355.4

p.A282fs

c.844_845fs

2 papers

NM_015355.4

p.A282delFs

c.844_845delGC

1 paper

NM_015355.4

p.L280fs

c.838_839fs