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.L406fs

c.1216_1217fs

Surrounding Variants

1 paper

NM_015355.4

p.T407T

c.1221T>A

1 paper

NM_015355.4

p.E404*

c.1210G>T

1 paper

NM_015355.4

p.K403delFs

c.1209delA

1 paper

NM_015355.4

p.Q411fs

c.1231_1232fs

1 paper

NM_015355.4

p.T412A

c.1234A>G

1 paper

NM_015355.4

p.T412K

c.1235C>A

1 paper

NM_015355.4

p.T412_K414delFs

c.1236_1240del5

1 paper

NM_015355.4

p.R413*

c.1237A>T

1 paper

NM_015355.4

p.E415fs

c.1243_1244fs

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.D417Y

c.1249G>T