Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.L591_G592delins

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.L591_G592delins
c.1772_1776delinsCT
Surrounding Variants
1 paper
NM_001083962.2
p.D583_R593del11
c.1747_1778del33
2 papers
NM_001083962.2
p.L591F
c.1771C>T
1 paper
NM_001083962.2
p.E586_A587del2
c.1756_1760del6
4 papers
NM_001083962.2
p.A587P
c.1759G>C
1 paper
NM_001083962.2
p.N585S
c.1754A>G
2 papers
NM_001083962.2
p.N585D
c.1753A>G
1 paper
NM_001243231.2
p.K554delFs
c.1662delC
12 papers
NM_001083962.2
p.R582P
c.1745G>C
3 papers
NM_001083962.2
p.R582H
c.1745G>A
NM_003199.3
p.R578H
c.1733G>A
1 paper
NM_001083962.2
p.K603E
c.1807A>G
1 paper
NM_001083962.2
p.V581F
c.1741G>T
1 paper
NM_001083962.2
p.V581L
c.1741G>C
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