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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FUCA1

FUCA1

142 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), ...

Pfam Domains

Alpha_L_fucosaa 24–367UCSCAlpha-L-fucosidase

Fucosidase_Caa 378–463UCSCAlpha-L-fucosidase C-terminal domain

Gene Aliases

HGNC Name

alpha-L-fucosidase 1

HGNC Previous Name

fucosidase, alpha-L- 1, tissue

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 232 variants

11 papers

chr1:23854472 T>C

NM_000147.5

p.Q286R

c.857A>G

Alpha_L_fucos

Exome: 31.5% (AC=460378, hom=75615)Genome: 26.8% (AC=40816, hom=6033)74 overlapping SVs

7 papers

chr1:23868283 G>A

NM_000147.5

p.R2W

c.4C>T

Exome: 10.1% (AC=140562, hom=7561)Genome: 10.7% (AC=16305, hom=962)77 overlapping SVs

7 papers

chr1:23868258 G>C

NM_000147.5

p.P10R

c.29C>G

Exome: 10.1% (AC=141225, hom=7578)Genome: 10.7% (AC=16316, hom=964)77 overlapping SVs

7 papers

chr1:23868043 G>A

NM_000147.5

p.Q82*

c.244C>T

Alpha_L_fucos

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)77 overlapping SVs

5 papers

chr1:23865622 A>C

NM_000147.5

p.Y131*

c.393T>G

Alpha_L_fucos

exact variant not in gnomAD77 overlapping SVs

5 papers

chr1:23865622 A>T

NM_000147.5

p.Y131*

c.393T>A

Alpha_L_fucos

Exome: 0.0% (AC=8, hom=0)Genome: n/a77 overlapping SVs

4 papers

chr1:23867927 C>A

NM_000147.5

p.W120C

c.360G>T

Alpha_L_fucos

Exome: 0.0% (AC=0, hom=0)Genome: n/a77 overlapping SVs

4 papers

chr1:23867927 C>G

NM_000147.5

p.W120C

c.360G>C

Alpha_L_fucos

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=3, hom=0)77 overlapping SVs

4 papers

chr1:23863232 C>T

NM_000147.5

p.W188*

c.564G>A

Alpha_L_fucos

Exome: 0.0% (AC=3, hom=0)Genome: n/a74 overlapping SVs

3 papers

chr1:23863233 C>T

NM_000147.5

p.W188*

c.563G>A

Alpha_L_fucos

Exome: 0.0% (AC=5, hom=0)Genome: n/a74 overlapping SVs

3 papers

chr1:23859894 AG>A

NM_000147.5

p.P224delFs

c.671delG

Alpha_L_fucos

exact variant not in gnomAD76 overlapping SVs

3 papers

chr1:23859875 C>G

NM_000147.5

p.G231R

c.691G>C

Alpha_L_fucos

exact variant not in gnomAD76 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."