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.R427*

c.1279A>T

Surrounding Variants

1 paper

NM_015355.4

p.L426fs

c.1276_1277fs

1 paper

NM_015355.4

p.R423Q

c.1268G>A

2 papers

NM_015355.4

p.Y430*

c.1290T>A

2 papers

NM_015355.4

p.Y430*

c.1290T>G

4 papers

NM_015355.4

p.Q431*

c.1291C>T

2 papers

NM_015355.4

p.R423*

c.1267C>T

1 paper

NM_015355.4

p.Q431_F432Splc

c.1293+1G>C

1 paper

NM_015355.4

p.D417Y

c.1249G>T

1 paper

NM_015355.4

p.K416N

c.1248G>C

1 paper

NM_015355.4

p.K416N

c.1248G>T

1 paper

NM_015355.4

p.E415fs

c.1243_1244fs

1 paper

NM_015355.4

p.R413*

c.1237A>T