Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.S550Splc

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
3 papers
NM_001083962.2
p.S550Splc
c.1650-1G>A
Surrounding Variants
2 papers
NM_001083962.2
p.S550Splc
c.1650-2A>C
1 paper
NM_001083962.2
p.S550Splc
c.1650-10T>A
1 paper
NM_001083962.2
p.D554fs
c.1660_1661fs
1 paper
NM_001083962.2
p.E555*
c.1663G>T
1 paper
NM_001083962.2
p.E555K
c.1663G>A
1 paper
NM_001083962.2
p.D554delFs
c.1662delA
1 paper
NM_001083962.2
p.Q561*
c.1681C>T
1 paper
NM_001083962.2
p.E564*
c.1690G>T
1 paper
NM_001083962.2
p.A563insFs
c.1689dupA
1 paper
NM_001083962.2
p.E564fs
c.1690_1691fs
1 paper
NM_001243231.2
p.E514_A517del4
c.1540_1550del12
1 paper
NM_001083962.2
p.R565R
c.1695T>A
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