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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FOXD4L1

FOXD4L1

74 papers

RefSeq Summary

This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members of the FOX family of transcription factors are regulator...

Pfam Domains

Forkheadaa 106–192UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box D4 like 1

HGNC Alias Symbol

FOXD5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 87 variants

16 papers

chr2:113499689 C>T

NM_012184.5

p.R145C

c.433C>T

Forkhead

Exome: 5.0% (AC=56422, hom=0)Genome: 0.2% (AC=324, hom=0)150 overlapping SVs

11 papers

chr2:113499719 A>G

NM_012184.5

p.I155V

c.463A>G

Forkhead

Exome: 0.9% (AC=11795, hom=0)Genome: 0.1% (AC=144, hom=0)150 overlapping SVs

7 papers

chr2:113499866 A>C

NM_012184.5

p.K204Q

c.610A>C

Exome: 4.2% (AC=53356, hom=24605)Genome: 0.9% (AC=1073, hom=14)150 overlapping SVs

5 papers

chr2:113499585 A>C

NM_012184.5

p.Y110S

c.329A>C

Forkhead

Exome: 0.0% (AC=370, hom=2)Genome: 0.1% (AC=132, hom=0)149 overlapping SVs

5 papers

chr2:113500013 G>C

NM_012184.5

p.A253P

c.757G>C

Exome: 1.1% (AC=13298, hom=0)Genome: 0.1% (AC=166, hom=0)150 overlapping SVs

3 papers

chr2:113499282 C>T

NM_012184.5

p.P9L

c.26C>T

Exome: 10.2% (AC=128158, hom=31280)Genome: 20.3% (AC=29387, hom=3441)149 overlapping SVs

3 papers

chr2:113499665 A>T

NM_012184.5

p.I137F

c.409A>T

Forkhead

Exome: 0.0% (AC=326, hom=0)Genome: 0.0% (AC=21, hom=0)150 overlapping SVs

3 papers

chr2:113499957 C>G

NM_012184.5

p.P234R

c.701C>G

Exome: 0.1% (AC=1983, hom=0)Genome: 0.0% (AC=26, hom=0)150 overlapping SVs

3 papers

chr2:113499978 T>C

NM_012184.5

p.L241P

c.722T>C

Exome: 2.2% (AC=27843, hom=13472)Genome: 1.7% (AC=1874, hom=19)150 overlapping SVs

3 papers

chr2:113500018 C>G

NM_012184.5

p.P254P

c.762C>G

Exome: 1.1% (AC=13762, hom=0)Genome: 0.1% (AC=162, hom=0)150 overlapping SVs

2 papers

chr2:113499358 A>G

NM_012184.5

p.E34E

c.102A>G

exact variant not in gnomAD149 overlapping SVs

2 papers

chr2:113499531 C>A

NM_012184.5

p.P92Q

c.275C>A

Exome: 0.0% (AC=6, hom=0)Genome: n/a149 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."