Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.R578H

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
21 papers
NM_001083962.2
p.R578H
c.1733G>A
NM_001243226.3
p.R680H
c.2039G>A
Surrounding Variants
1 paper
NM_001083962.2
p.R578L
c.1733G>T
8 papers
NM_001083962.2
p.R578P
c.1733G>C
7 papers
NM_001083962.2
p.R578C
c.1732C>T
NM_003199.3
p.R574C
c.1720C>T
1 paper
NM_001083962.2
p.R578G
c.1732C>G
3 papers
NM_001243230.2
p.L572L
c.1714C>T
NM_001243226.3
p.L681L
c.2041C>T
NM_001083962.2
p.L579L
c.1735C>T
2 papers
NM_001083962.2
p.E577G
c.1730A>G
24 papers
NM_001083962.2
p.R580W
c.1738C>T
NM_003199.3
p.R576W
c.1726C>T
NM_001243226.3
p.R682W
c.2044C>T
1 paper
NM_003199.3
p.R576G
c.1726C>G
2 papers
NM_001083962.2
p.R580L
c.1739G>T
1 paper
NM_001083962.2
p.R580P
c.1739G>C
16 papers
NM_001083962.2
p.R576Q
c.1727G>A
15 papers
NM_001083962.2
p.R580Q
c.1739G>A
NM_003199.3
p.R576Q
c.1727G>A
NM_001243226.3
p.R682Q
c.2045G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."