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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG14

Variant:p.R104*

ALG14

56 papers

RefSeq Summary

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplas...

Pfam Domains

Alg14aa 39–215UCSCOligosaccharide biosynthesis protein Alg14 like

Gene Aliases

HGNC Name

ALG14 UDP-N-acetylglucosaminyltransferase subunit

HGNC Alias Symbol

MGC19780

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

9 papers

chr1:95027239 G>A

NM_144988.4

p.R104*

c.310C>T

Alg14

Exome: 0.0% (AC=135, hom=0)Genome: 0.0% (AC=6, hom=0)229 overlapping SVs

Surrounding Variants

1 paper

chr1:95027238 C>T

NM_144988.4

p.R104Q

c.311G>A

Alg14

Exome: 0.0% (AC=49, hom=0)Genome: 0.0% (AC=6, hom=0)229 overlapping SVs

1 paper

chr1:95027233 G>A

NM_144988.4

p.P106S

c.316C>T

Alg14

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:95027232 G>T

NM_144988.4

p.P106Q

c.317C>A

Alg14

exact variant not in gnomAD229 overlapping SVs

6 papers

chr1:95027223 C>T

NM_144988.4

p.R109Q

c.326G>A

Alg14

Exome: 0.0% (AC=202, hom=0)Genome: 0.0% (AC=7, hom=0)229 overlapping SVs

1 paper

chr1:95027259 T>G

NM_144988.4

p.Y97S

c.290A>C

Alg14

exact variant not in gnomAD229 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."