Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.N574S

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
1 paper
NM_001083962.2
p.N574S
c.1721A>G
Surrounding Variants
1 paper
NM_001083962.2
p.N574T
c.1721A>C
1 paper
NM_001083962.2
p.N574D
c.1720A>G
1 paper
NM_003199.3
p.N569K
c.1707C>G
1 paper
NM_003199.3
p.N569K
c.1707C>A
1 paper
NM_001083962.2
p.N573I
c.1718A>T
1 paper
NM_001083962.2
p.N573D
c.1717A>G
7 papers
NM_001243226.3
p.R678*
c.2032C>T
NM_001083962.2
p.R576*
c.1726C>T
7 papers
NM_001083962.2
p.R576G
c.1726C>G
NM_003199.3
p.R572G
c.1714C>G
16 papers
NM_001083962.2
p.R576Q
c.1727G>A
2 papers
NM_001083962.2
p.E577G
c.1730A>G
1 paper
NM_001083962.2
p.R570S
c.1710G>T
1 paper
NM_001083962.2
p.R570S
c.1710G>C
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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."