Varaico: Literature-Extracted Genetic Variants

GTF3A

384 papers

RefSeq Summary

The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. ...

Pfam Domains

zf-C2H2aa 70–94UCSCZinc finger, C2H2 type

zf-C2H2aa 100–125UCSCZinc finger, C2H2 type

TFIIIA_zf-C2H2aa 178–208UCSCTFIIIA, beta-beta-alpha zinc finger

zf-C2H2aa 218–239UCSCZinc finger, C2H2 type

zf-C2H2aa 246–271UCSCZinc finger, C2H2 type

zf-C2H2aa 277–301UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

general transcription factor IIIA

HGNC Alias Symbols

TFIIIA; AP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002097.3

p.R89C

c.265C>T

Surrounding Variants

1 paper

NM_002097.3

p.S88N

c.263G>A

1 paper

NM_002097.3

p.S88insFs

c.264dupC

1 paper

NM_002097.3

p.S88fs

c.262_263fs

1 paper

NM_002097.3

p.Y85C

c.254A>G

1 paper

NM_002097.3

p.Y85N

c.253T>A

1 paper

NM_002097.3

p.T93I

c.278C>T

1 paper

NM_002097.3

p.H94D

c.280C>G

1 paper

NM_002097.3

p.E97V

c.290A>T

1 paper

NM_002097.3

p.K79E

c.235A>G

1 paper

NM_002097.3

p.C77*

c.231T>A

1 paper

NM_002097.3

p.V101insFs

c.302_303insCG

1 paper

NM_002097.3

p.G76A

c.227G>C