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.L250_L251insFs

c.749_752dup4

Surrounding Variants

1 paper

NM_015355.4

p.S249*

c.746C>A

1 paper

NM_015355.4

p.S249L

c.746C>T

1 paper

NM_015355.4

p.S249_L250del1

c.746_748delCGT

1 paper

NM_015355.4

p.K246fs

c.736_737fs

1 paper

NM_015355.4

p.M244insFs

c.731dupT

1 paper

NM_015355.4

p.T255N

c.764C>A

1 paper

NM_015355.4

p.R256H

c.767G>A

1 paper

NM_015355.4

p.S242R

c.726C>A

1 paper

NM_015355.4

p.S242R

c.726C>G

1 paper

NM_015355.4

p.S242R

c.724A>C

1 paper

NM_015355.4

p.G258R

c.772G>A

1 paper

NM_015355.4

p.N241fs

c.721_722fs