Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.A614V

TCF4

565 papers

RefSeq Summary

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in ...

Pfam Domains

HLHaa 540–593UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

transcription factor 4

HGNC Alias Symbols

SEF2-1B; ITF2; bHLHb19; E2-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_001083962.2
p.A614V
c.1841C>T
NM_001243226.3
p.A716V
c.2147C>T
NM_003199.3
p.A610V
c.1829C>T
Surrounding Variants
1 paper
NM_003199.3
p.V613F
c.1837G>T
4 papers
NM_001083962.2
p.V617I
c.1849G>A
1 paper
NM_001083962.2
p.L611R
c.1832T>G
1 paper
NM_001083962.2
p.T606_I610del0
c.1817_1828del12
1 paper
NM_001083962.2
p.L608L
c.1824C>T
1 paper
NM_001083962.2
p.K607T
c.1820A>C
2 papers
NM_001083962.2
p.K607E
c.1819A>G
2 papers
NM_001083962.2
p.T606A
c.1816A>G
5 papers
NM_001083962.2
p.Q623*
c.1867C>T
NM_003199.3
p.Q619*
c.1855C>T
2 papers
NM_001083962.2
p.Q605*
c.1813C>T
2 papers
NM_001083962.2
p.Q624P
c.1871A>C
1 paper
NM_001083962.2
p.V625G
c.1874T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."