Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.R569W

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
9 papers
NM_001083962.2
p.R569W
c.1705C>T
Surrounding Variants
1 paper
NM_001083962.2
p.R569Q
c.1706G>A
1 paper
NM_001083962.2
p.R570S
c.1710G>T
1 paper
NM_001083962.2
p.R570S
c.1710G>C
3 papers
NM_001083962.2
p.K567*
c.1699A>T
1 paper
NM_001083962.2
p.R565R
c.1695T>A
1 paper
NM_001243231.2
p.E514_A517del4
c.1540_1550del12
1 paper
NM_001083962.2
p.N573D
c.1717A>G
1 paper
NM_001083962.2
p.N573I
c.1718A>T
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.E564*
c.1690G>T
1 paper
NM_001083962.2
p.A563insFs
c.1689dupA
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