Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.S17G

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
1 paper
NM_003200.5
p.S17G
c.49A>G
Surrounding Variants
1 paper
NM_003200.5
p.S17N
c.50G>A
1 paper
NM_003200.5
p.L16L
c.48C>T
1 paper
NM_003200.5
p.L16insFs
c.46dupC
1 paper
NM_003200.5
p.L16I
c.46C>A
1 paper
NM_003200.5
p.E15_L16insFs
c.45_46insT
1 paper
NM_003200.5
p.E15E
c.45G>A
2 papers
NM_003200.5
p.D18V
c.53A>T
1 paper
NM_003200.5
p.E15V
c.44A>T
1 paper
NM_003200.5
p.L20V
c.58C>G
1 paper
NM_003200.5
p.K14E
c.40A>G
1 paper
NM_003200.5
p.L20P
c.59T>C
1 paper
NM_003200.5
p.D13E
c.39C>A
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