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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FGL1

FGL1

83 papers

RefSeq Summary

Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fi...

Pfam Domains

Fibrinogen_Caa 79–305UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

fibrinogen like 1

HGNC Alias Symbol

HFREP-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 49 variants

5 papers

chr8:17874452 G>A

NM_004467.4

p.P105L

c.314C>T

Fibrinogen_C

Exome: 8.9% (AC=130500, hom=6628)Genome: 13.8% (AC=20946, hom=1838)22 overlapping SVs

5 papers

chr8:17874102 T>A

NM_004467.4

p.Y140F

c.419A>T

Fibrinogen_C

Exome: 2.0% (AC=29371, hom=346)Genome: 1.5% (AC=2293, hom=25)22 overlapping SVs

4 papers

chr8:17868560 C>A

NM_004467.4

p.W256L

c.767G>T

Fibrinogen_C

Exome: 1.4% (AC=20848, hom=197)Genome: 1.2% (AC=1787, hom=20)22 overlapping SVs

2 papers

chr8:17885542 A>T

NM_004467.4

p.F5I

c.13T>A

Exome: 2.2% (AC=32233, hom=592)Genome: 2.0% (AC=3110, hom=57)21 overlapping SVs

2 papers

chr8:17885511 G>A

NM_004467.4

p.T15I

c.44C>T

Exome: 75.6% (AC=1102257, hom=422874)Genome: 76.4% (AC=116167, hom=45238)21 overlapping SVs

2 papers

chr8:17882130 C>A

NM_004467.4

p.R38L

c.113G>T

Exome: 2.2% (AC=32680, hom=603)Genome: 2.2% (AC=3276, hom=59)23 overlapping SVs

2 papers

chr8:17882029 T>C

NM_004467.4

p.I72V

c.214A>G

Exome: 64.0% (AC=934796, hom=307937)Genome: 52.8% (AC=80186, hom=23520)23 overlapping SVs

2 papers

chr8:17868961 A>AN

NM_004467.4

p.N182fs

c.544_545fs

Fibrinogen_C

exact variant not in gnomAD22 overlapping SVs

2 papers

chr8:17868961 A>AT

NM_004467.4

p.N182insFs

c.545_546insA

Fibrinogen_C

Exome: 0.3% (AC=3815, hom=65)Genome: 0.4% (AC=656, hom=11)22 overlapping SVs

1 paper

chr8:17885544 A>G

NM_004467.4

p.V4A

c.11T>C

exact variant not in gnomAD21 overlapping SVs

1 paper

chr8:17885493 G>A

NM_004467.4

p.S21L

c.62C>T

Exome: 0.0% (AC=17, hom=0)Genome: n/a21 overlapping SVs

1 paper

chr8:17882149 G>A

NM_004467.4

p.R32W

c.94C>T

Exome: 0.0% (AC=128, hom=0)Genome: 0.0% (AC=12, hom=0)23 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."