Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.A424V

TCF3

948 papers

RefSeq Summary

This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as he...

Pfam Domains

HLHaa 550–603UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

transcription factor 3

HGNC Alias Symbols

E2A; ITF1; MGC129647; MGC129648; bHLHb21; VDIR; E47; p75

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003200.5
p.A424V
c.1271C>T
Surrounding Variants
1 paper
NM_003200.5
p.H422R
c.1265A>G
1 paper
NM_003200.5
p.L419_G421del3
c.1255_1262del9
1 paper
NM_003200.5
p.P420S
c.1258C>T
1 paper
NM_003200.5
p.L418P
c.1253T>C
2 papers
NM_003200.5
p.G431C
c.1291G>T
1 paper
NM_003200.5
p.T417T
c.1251G>C
12 papers
NM_003200.5
p.G431S
c.1291G>A
1 paper
NM_003200.5
p.T417M
c.1250C>T
5 papers
NM_003200.5
p.G431delins
c.1291_1293delinsAGT
1 paper
NM_003200.5
p.H416Y
c.1246C>T
1 paper
NM_003200.5
p.H416ins1
c.1246_1247insTCA
1 paper
NM_003200.5
p.M415V
c.1243A>G
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