Varaico: Literature-Extracted Genetic Variants

PLAG1

95 papers

RefSeq Summary

Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomo...

Pfam Domains

zf-C2H2_6aa 33–59UCSCC2H2-type zinc finger

zf-C2H2aa 62–86UCSCZinc finger, C2H2 type

zf-C2H2aa 121–143UCSCZinc finger, C2H2 type

zf-C2H2_6aa 151–175UCSCC2H2-type zinc finger

zf-C2H2aa 185–207UCSCZinc finger, C2H2 type

zf-C2H2aa 213–236UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PLAG1 zinc finger

HGNC Alias Symbol

ZNF912

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_002655.3

p.S147delFs

c.439delT

Surrounding Variants

5 papers

NM_002655.3

p.S147fs

c.439_440fs

1 paper

NM_002655.3

p.T151I

c.452C>T

1 paper

NM_002655.3

p.K137delFs

c.411delT

1 paper

NM_002655.3

p.K137fs

c.409_410fs

1 paper

NM_002655.3

p.T158N

c.473C>A

2 papers

NM_002655.3

p.L134delFs

c.402delA

2 papers

NM_002655.3

p.G135fs

c.403_404fs

1 paper

NM_002655.3

p.S171delFs

c.512delG

1 paper

NM_002655.3

p.H172P

c.515A>C

1 paper

NM_002655.3

p.T120S

c.358A>T

1 paper

NM_002655.3

p.S176L

c.527C>T

1 paper

NM_002655.3

p.S176*

c.527C>A