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.A677T

c.2029G>A

Surrounding Variants

4 papers

NM_015355.4

p.A677G

c.2030C>G

1 paper

NM_015355.4

p.K676insFs

c.2028dupA

1 paper

NM_015355.4

p.V678insFs

c.2033_2034insC

1 paper

NM_015355.4

p.D675fs

c.2023_2024fs

4 papers

NM_015355.4

p.T679I

c.2036C>T

1 paper

NM_015355.4

p.S673*

c.2018C>A

1 paper

NM_015355.4

p.S673*

c.2018C>G

1 paper

NM_015355.4

p.I674_K676delFs

c.2021_2028del8

1 paper

NM_015355.4

p.M672_S673delFs

c.2014_2018del5

1 paper

NM_015355.4

p.I669T

c.2006T>C

1 paper

NM_015355.4

p.Q685*

c.2053C>T

2 papers

NM_015355.4

p.L668P

c.2003T>C