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

3 papers

NM_002097.3

p.C195W

c.585T>G

Surrounding Variants

1 paper

NM_002097.3

p.S196Y

c.587C>A

1 paper

NM_002097.3

p.C195G

c.583T>G

1 paper

NM_002097.3

p.S196S

c.588C>T

1 paper

NM_002097.3

p.K193K

c.579A>G

1 paper

NM_002097.3

p.V190V

c.570A>T

1 paper

NM_002097.3

p.V190A

c.569T>C

1 paper

NM_002097.3

p.T201T

c.603A>G

1 paper

NM_002097.3

p.G188V

c.563G>T

1 paper

NM_002097.3

p.E211Q

c.631G>C

1 paper

NM_002097.3

p.E215G

c.644A>G

1 paper

NM_002097.3

p.E216A

c.647A>C

1 paper

NM_002097.3

p.L218P

c.653T>C