Varaico: Literature-Extracted Genetic Variants

Gene:TFEC
Variant:p.Q139R

TFEC

34 papers

RefSeq Summary

This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by bindin...

Pfam Domains

HLHaa 140–193UCSCHelix-loop-helix DNA-binding domain
DUF3371aa 225–344UCSCDomain of unknown function (DUF3371)

Gene Aliases

HGNC Name

transcription factor EC

HGNC Alias Symbols

TCFEC; TFECL; bHLHe34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012252.4
p.Q139R
c.416A>G
Surrounding Variants
1 paper
NM_012252.4
p.K141fs
c.421_422fs
1 paper
NM_012252.4
p.L146V
c.436C>G
1 paper
NM_012252.4
p.E128Splc
c.382+2T>C
1 paper
NM_012252.4
p.R124*
c.370A>T
1 paper
NM_012252.4
p.G103E
c.308G>A
1 paper
NM_012252.4
p.S91P
c.271T>C
1 paper
NM_012252.4
p.L90F
c.270A>T
1 paper
NM_012252.4
p.L90F
c.270A>C
1 paper
NM_012252.4
p.L165F
c.493C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."