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.A415V

c.1244C>T

Surrounding Variants

1 paper

NM_002655.3

p.L416F

c.1248G>T

1 paper

NM_002655.3

p.L416F

c.1248G>C

1 paper

NM_002655.3

p.S419C

c.1256C>G

1 paper

NM_002655.3

p.I405V

c.1213A>G

1 paper

NM_002655.3

p.G396E

c.1187G>A

1 paper

NM_002655.3

p.V437V

c.1311G>A

1 paper

NM_002655.3

p.G389A

c.1166G>C

1 paper

NM_002655.3

p.I388_G389delFs

c.1164_1165delCA

1 paper

NM_002655.3

p.I388V

c.1162A>G

1 paper

NM_002655.3

p.V453L

c.1357G>C

4 papers

NM_002655.3

p.Q455fs

c.1363_1364fs

7 papers

NM_002655.3

p.Q455delFs

c.1363delG