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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANKRD55

Variant:p.V14L

ANKRD55

5q11.2 (UCSC)OMIM GTEx

70 papers

Pfam Domains

Ank_2aa 31–124UCSCAnkyrin repeats (3 copies)

Ank_2aa 98–192UCSCAnkyrin repeats (3 copies)

Ank_2aa 187–262UCSCAnkyrin repeats (3 copies)

Ank_2aa 241–328UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 55

HGNC Alias Symbol

FLJ11795

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:56232874 C>A

NM_024669.3

p.V14L

c.40G>T

exact variant not in gnomAD67 overlapping SVs

Surrounding Variants

chr5:56232874 C>G

NM_024669.3

p.V14L

c.40G>C

exact variant not in gnomAD67 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."