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.K40T

c.119A>C

Surrounding Variants

1 paper

NM_015355.4

p.K40I

c.119A>T

1 paper

NM_015355.4

p.S41delFs

c.123delC

2 papers

NM_015355.4

p.G39D

c.116G>A

1 paper

NM_015355.4

p.G39S

c.115G>A

2 papers

NM_015355.4

p.G42fs

c.124_125fs

1 paper

NM_015355.4

p.G38S

c.112G>A

1 paper

NM_015355.4

p.S37*

c.110C>A

1 paper

NM_015355.4

p.G44R

c.130G>C

2 papers

NM_015355.4

p.S45G

c.133A>G

1 paper

NM_015355.4

p.T35A

c.103A>G

1 paper

NM_015355.4

p.A34A

c.102G>C

1 paper

NM_015355.4

p.A34G

c.101C>G