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.E216A

c.647A>C

Surrounding Variants

1 paper

NM_002097.3

p.L218P

c.653T>C

3 papers

NM_002097.3

p.C219R

c.655T>C

1 paper

NM_002097.3

p.R223Q

c.668G>A

1 paper

NM_002097.3

p.R228C

c.682C>T

1 paper

NM_002097.3

p.R228R

c.684C>T

1 paper

NM_002097.3

p.D230N

c.688G>A

1 paper

NM_002097.3

p.D230A

c.689A>C

1 paper

NM_002097.3

p.Y231insFs

c.691_692insAG

1 paper

NM_002097.3

p.M236I

c.708G>A

1 paper

NM_002097.3

p.T238S

c.713C>G

3 papers

NM_002097.3

p.V245L

c.733G>C

3 papers

NM_002097.3

p.V245L

c.733G>T