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

2 papers

NM_002655.3

p.R230*

c.688C>T

Surrounding Variants

3 papers

NM_002655.3

p.R224Q

c.671G>A

1 paper

NM_002655.3

p.F222delFs

c.666delA

1 paper

NM_002655.3

p.F222fs

c.664_665fs

1 paper

NM_002655.3

p.Y217C

c.650A>G

1 paper

NM_002655.3

p.P247R

c.740C>G

1 paper

NM_002655.3

p.P253insFs

c.758dupC

1 paper

NM_002655.3

p.F254fs

c.760_761fs

2 papers

NM_002655.3

p.M204del1

c.610_612delCAT

1 paper

NM_002655.3

p.N257fs

c.769_770fs

1 paper

NM_002655.3

p.N257delFs

c.770delT

1 paper

NM_002655.3

p.R202G

c.604A>G

3 papers

NM_002655.3

p.R201fs

c.601_602fs