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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FIBCD1

Variant:p.R297Q

FIBCD1

40 papers

RefSeq Summary

FIBCD1 is a conserved type II transmembrane endocytic receptor that binds chitin and is located primarily in the intestinal brush border (Schlosser et al., 2009 [PubMed 19710473]).[supplied by OMIM, A...

Pfam Domains

Fibrinogen_Caa 240–457UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

fibrinogen C domain containing 1

HGNC Alias Symbol

FLJ14810

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr9:130911848 C>T

NM_032843.5

p.R297Q

c.890G>A

Fibrinogen_C

Exome: 0.0% (AC=181, hom=0)Genome: 0.0% (AC=25, hom=0)11 overlapping SVs

Surrounding Variants

1 paper

chr9:130911838 A>G

NM_032843.5

p.D300D

c.900T>C

Fibrinogen_C

Exome: 42.6% (AC=616843, hom=136027)Genome: 53.1% (AC=80601, hom=23543)11 overlapping SVs

1 paper

chr9:130911837 C>T

NM_032843.5

p.A301T

c.901G>A

Fibrinogen_C

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=5, hom=0)11 overlapping SVs

1 paper

chr9:130911859 C>T

NM_032843.5

p.V293V

c.879G>A

Fibrinogen_C

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr9:130911863 G>T

NM_032843.5

p.S292Y

c.875C>A

Fibrinogen_C

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

3 papers

chr9:130911831 G>C

NM_032843.5

p.R303G

c.907C>G

Fibrinogen_C

Exome: 0.5% (AC=6698, hom=46)Genome: 0.4% (AC=565, hom=3)11 overlapping SVs

1 paper

chr9:130911825 C>T

NM_032843.5

p.G305S

c.913G>A

Fibrinogen_C

Exome: 0.0% (AC=82, hom=0)Genome: 0.0% (AC=4, hom=0)11 overlapping SVs

1 paper

chr9:130911824 C>T

NM_032843.5

p.G305D

c.914G>A

Fibrinogen_C

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr9:130905414 C>G

NM_032843.5

p.G316Splc

c.947-1G>C

Exome: 0.0% (AC=100, hom=3)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

1 paper

chr9:130905291 C>A

NM_032843.5

p.V357L

c.1069G>T

Fibrinogen_C

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr9:130905291 C>G

NM_032843.5

p.V357L

c.1069G>C

Fibrinogen_C

exact variant not in gnomAD11 overlapping SVs

1 paper

chr9:130905266 G>A

NM_032843.5

p.P365L

c.1094C>T

Fibrinogen_C

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr9:130905254 G>A

NM_032843.5

p.A369V

c.1106C>T

Fibrinogen_C

exact variant not in gnomAD11 overlapping SVs

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