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

1 paper

NM_002655.3

p.P253insFs

c.758dupC

Surrounding Variants

1 paper

NM_002655.3

p.F254fs

c.760_761fs

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.V260fs

c.778_779fs

1 paper

NM_002655.3

p.P247R

c.740C>G

1 paper

NM_002655.3

p.V260delFs

c.779_780delCA

1 paper

NM_002655.3

p.P261L

c.782C>T

1 paper

NM_002655.3

p.E265*

c.793G>T

1 paper

NM_002655.3

p.P268L

c.803C>T

2 papers

NM_002655.3

p.R230*

c.688C>T

3 papers

NM_002655.3

p.R224Q

c.671G>A

1 paper

NM_002655.3

p.N284D

c.850A>G