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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANGPTL4

ANGPTL4

208 papers

RefSeq Summary

This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone tha...

Pfam Domains

Fibrinogen_Caa 184–400UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

angiopoietin like 4

HGNC Alias Symbols

pp1158; PGAR; ARP4; HFARP; FIAF; NL2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 170 variants

90 papers

chr19:8364439 G>A

NM_139314.3

p.E40K

c.118G>A

Exome: 1.7% (AC=24354, hom=232)Genome: 1.5% (AC=2292, hom=30)13 overlapping SVs

23 papers

chr19:8371280 C>T

NM_139314.3

p.T266M

c.797C>T

Fibrinogen_C

Exome: 30.6% (AC=446549, hom=70206)Genome: 28.8% (AC=43796, hom=6532)11 overlapping SVs

12 papers

chr19:8371489 C>T

NM_139314.3

p.R336C

c.1006C>T

Fibrinogen_C

Exome: 0.2% (AC=3526, hom=5)Genome: 0.2% (AC=337, hom=1)12 overlapping SVs

8 papers

chr19:8366271 G>A

NM_139314.3

p.E167K

c.499G>A

Exome: 0.0% (AC=624, hom=0)Genome: 0.0% (AC=27, hom=0)12 overlapping SVs

7 papers

chr19:8371061 G>C

NM_139314.3

p.G223R

c.667G>C

Fibrinogen_C

exact variant not in gnomAD11 overlapping SVs

7 papers

chr19:8373815 C>T

NM_139314.3

p.R384W

c.1150C>T

Fibrinogen_C

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=3, hom=0)12 overlapping SVs

6 papers

chr19:8369239 G>C

NM_139314.3

p.E190Q

c.568G>C

Fibrinogen_C

Exome: 0.3% (AC=4884, hom=29)Genome: 0.5% (AC=805, hom=6)11 overlapping SVs

6 papers

chr19:8371145 C>A

NM_139314.3

p.P251T

c.751C>A

Fibrinogen_C

Exome: 0.0% (AC=108, hom=0)Genome: 0.0% (AC=9, hom=0)11 overlapping SVs

6 papers

chr19:8371316 G>A

NM_139314.3

p.R278Q

c.833G>A

Fibrinogen_C

Exome: 0.3% (AC=4358, hom=115)Genome: 1.9% (AC=2832, hom=89)11 overlapping SVs

6 papers

chr19:8373746 G>A

NM_139314.3

p.G361S

c.1081G>A

Fibrinogen_C

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=6, hom=0)12 overlapping SVs

5 papers

chr19:8369320 A>T

NM_139314.3

p.K217*

c.649A>T

Fibrinogen_C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

5 papers

chr19:8373712 G>C

NM_139314.3

p.W349C

c.1047G>C

Fibrinogen_C

exact variant not in gnomAD12 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."