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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TFEC

Variant:p.N56D

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:115984276 T>C

NM_012252.4

p.N56D

c.166A>G

exact variant not in gnomAD65 overlapping SVs

Surrounding Variants

1 paper

chr7:115984281 T>A

NM_012252.4

p.D54V

c.161A>T

exact variant not in gnomAD65 overlapping SVs

1 paper

chr7:115984296 G>T

NM_012252.4

p.A49D

c.146C>A

exact variant not in gnomAD65 overlapping SVs

1 paper

chr7:115984299 A>T

NM_012252.4

p.L48Q

c.143T>A

exact variant not in gnomAD65 overlapping SVs

1 paper

chr7:115984338 C>T

NM_012252.4

p.S35N

c.104G>A

Exome: 0.1% (AC=1532, hom=37)Genome: 0.1% (AC=91, hom=4)65 overlapping SVs

1 paper

chr7:115984384 G>A

NM_012252.4

p.P20S

c.58C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a65 overlapping SVs

3 papers

chr7:115984424 C>A

NM_012252.4

p.Q6H

c.18G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a65 overlapping SVs

3 papers

chr7:115984424 C>G

NM_012252.4

p.Q6H

c.18G>C

Exome: 2.9% (AC=42867, hom=777)Genome: 2.0% (AC=3092, hom=41)65 overlapping SVs

1 paper

chr7:115984440 A>T

NM_012252.4

p.M1K

c.2T>A

exact variant not in gnomAD65 overlapping SVs

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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."