Varaico: Literature-Extracted Genetic Variants

GTF2A1

61 papers

RefSeq Summary

Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong...

Pfam Domains

TFIIAaa 13–269UCSCTranscription factor IIA, alpha/beta subunit

TFIIAaa 263–376UCSCTranscription factor IIA, alpha/beta subunit

Gene Aliases

HGNC Name

general transcription factor IIA subunit 1

HGNC Alias Symbol

TFIIA

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

2 papers

NM_015859.4

p.E62K

c.184G>A

2 papers

NM_015859.4

p.S132*

c.395C>G

2 papers

NM_015859.4

p.S132*

c.395C>A

2 papers

NM_015859.4

p.S280A

c.838T>G

2 papers

NM_015859.4

p.S281A

c.841T>G

1 paper

NM_015859.4

p.V10_P11Splc

c.30+1G>A

1 paper

NM_015859.4

p.D20A

c.59A>C

1 paper

NM_015859.4

p.L30V

c.88C>G

1 paper

NM_015859.4

p.L30P

c.89T>C

1 paper

NM_015859.4

p.S53P

c.157T>C

1 paper

NM_015859.4

p.E62G

c.185A>G

1 paper

NM_015859.4

p.Q75_H82del0

c.225_245del21