Varaico: Literature-Extracted Genetic Variants

Gene:GTF2A1
Variant:p.S132*

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 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
Selected Variant
2 papers
NM_015859.4
p.S132*
c.395C>G
Surrounding Variants
2 papers
NM_015859.4
p.S132*
c.395C>A
1 paper
NM_015859.4
p.A113T
c.337G>A
1 paper
NM_015859.4
p.A113T
c.337G>A
1 paper
NM_015859.4
p.Q112Q
c.336A>G
1 paper
NM_015859.4
p.Q111H
c.333G>T
1 paper
NM_015859.4
p.Q111H
c.333G>C
1 paper
NM_015859.4
p.P92P
c.276T>A
1 paper
NM_015859.4
p.Q75_H82del0
c.225_245del21
1 paper
NM_015859.4
p.E62G
c.185A>G
2 papers
NM_015859.4
p.E62K
c.184G>A
1 paper
NM_015859.4
p.S53P
c.157T>C
1 paper
NM_015859.4
p.V166F
c.496G>T
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