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

1–12 of 194 variants

3 papers

NM_002097.3

p.C195W

c.585T>G

3 papers

NM_002097.3

p.C219R

c.655T>C

3 papers

NM_002097.3

p.V245L

c.733G>C

3 papers

NM_002097.3

p.V245L

c.733G>T

2 papers

NM_002097.3

p.M1P

c.2T>C

2 papers

NM_002097.3

p.A17V

c.50C>T

2 papers

NM_002097.3

p.A19T

c.55G>A

2 papers

NM_002097.3

p.R89C

c.265C>T

2 papers

NM_002097.3

p.N262N

c.786T>C

2 papers

NM_002097.3

p.H281R

c.842A>G

1 paper

NM_002097.3

p.M1M

c.1C>A

1 paper

NM_002097.3

p.M1L

c.3G>T