Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.A429V

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.A429V
c.1286C>T
Surrounding Variants
1 paper
NM_001083962.2
p.A429G
c.1286C>G
2 papers
NM_001083962.2
p.G428V
c.1283G>T
1 paper
NM_001083962.2
p.S425C
c.1274C>G
1 paper
NM_001083962.2
p.S425delFs
c.1273delA
2 papers
NM_001083962.2
p.G434S
c.1300G>A
1 paper
NM_001083962.2
p.P424L
c.1271C>T
1 paper
NM_001083962.2
p.G423fs
c.1267_1268fs
1 paper
NM_001083962.2
p.G420E
c.1259G>A
1 paper
NM_001083962.2
p.G440fs
c.1318_1319fs
1 paper
NM_001083962.2
p.G440V
c.1319G>T
2 papers
NM_001083962.2
p.G440delFs
c.1319delC
1 paper
NM_001083962.2
p.G416E
c.1247G>A
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