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.S487fs

c.1459_1460fs

Surrounding Variants

1 paper

NM_002655.3

p.R494C

c.1480C>T

1 paper

NM_002655.3

p.S477*

c.1430C>G

1 paper

NM_002655.3

p.S477*

c.1430C>A

1 paper

NM_002655.3

p.S485_*501del0

c.1455_1502del48

1 paper

NM_002655.3

p.D462Y

c.1384G>T

3 papers

NM_002655.3

p.P458T

c.1372C>A

1 paper

NM_002655.3

p.P457S

c.1369C>T

1 paper

NM_002655.3

p.L456L

c.1368C>A

7 papers

NM_002655.3

p.Q455delFs

c.1363delG

4 papers

NM_002655.3

p.Q455fs

c.1363_1364fs

1 paper

NM_002655.3

p.V453L

c.1357G>C

1 paper

NM_002655.3

p.V437V

c.1311G>A