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.K92Splc

c.275-2A>G

Surrounding Variants

1 paper

NM_015355.4

p.K92Splc

c.275-1G>C

2 papers

NM_015355.4

p.K92Splc

c.275-5C>G

1 paper

NM_015355.4

p.K92Splc

c.275-9A>G

1 paper

NM_015355.4

p.R98K

c.293G>A

5 papers

NM_015355.4

p.R101*

c.301C>T

1 paper

NM_015355.4

p.R101Q

c.302G>A

1 paper

NM_015355.4

p.R101L

c.302G>T

1 paper

NM_015355.4

p.R103Q

c.308G>A

1 paper

NM_015355.4

p.L105_I106delFs

c.313_317del5

1 paper

NM_015355.4

p.A107_P108Splc

c.322-1G>T

1 paper

NM_015355.4

p.L111delFs

c.333delG

1 paper

NM_015355.4

p.H112N

c.334C>A