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

1 paper

NM_002097.3

p.Y51C

c.152A>G

Surrounding Variants

1 paper

NM_002097.3

p.A49A

c.147C>G

1 paper

NM_002097.3

p.S48S

c.144C>T

1 paper

NM_002097.3

p.C47S

c.140G>C

1 paper

NM_002097.3

p.C47S

c.139T>A

1 paper

NM_002097.3

p.L57F

c.169C>T

1 paper

NM_002097.3

p.F44L

c.130T>C

1 paper

NM_002097.3

p.A59V

c.176C>T

1 paper

NM_002097.3

p.A59A

c.177G>A

1 paper

NM_002097.3

p.S43A

c.127T>G

1 paper

NM_002097.3

p.C42S

c.125G>C

1 paper

NM_002097.3

p.C42S

c.124T>A

1 paper

NM_002097.3

p.C42G

c.124T>G