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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANKRD29

Variant:p.R22T

ANKRD29

18q11.2 (UCSC)GTEx

18 papers

Pfam Domains

Ank_2aa 4–76UCSCAnkyrin repeats (3 copies)

Ank_2aa 50–141UCSCAnkyrin repeats (3 copies)

Ank_2aa 135–206UCSCAnkyrin repeats (3 copies)

Ank_2aa 182–273UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 29

HGNC Alias Symbol

FLJ25053

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr18:23649150 C>G

NM_173505.4

p.R22T

c.65G>C

exact variant not in gnomAD4 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."