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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATXN7L3B

ATXN7L3B

12q21.1 (UCSC)OMIM GTEx

4 papers

Pfam Domains

ATXN7L3Baa 8–42UCSCAtaxin-7-like protein 3B

Gene Aliases

HGNC Name

ataxin 7 like 3B

HGNC Alias Symbol

lnc-SCA7

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr12:74538138 T>G

NM_001136262.2

p.L9R

c.26T>G

exact variant not in gnomAD30 overlapping SVs

chr12:74538298 G>A

NM_001136262.2

p.Q62Q

c.186G>A

Exome: 0.0% (AC=6, hom=0)Genome: n/a30 overlapping SVs

chr12:74538327 T>C

NM_001136262.2

p.L72P

c.215T>C

Exome: n/aGenome: 0.0% (AC=2, hom=0)30 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."