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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTC17

Variant:p.E83_K84Splc

TTC17

11p12-p11.2 (UCSC)OMIM GTEx

62 papers

Pfam Domains

TPR_8aa 295–328UCSCTetratricopeptide repeat

TPR_8aa 691–722UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 17

HGNC Alias Symbol

FLJ10890

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr11:43379323 G>T

NM_018259.6

p.E83_K84Splc

c.249+1G>T

exact variant not in gnomAD18 overlapping SVs

Surrounding Variants

chr11:43379291 A>G

NM_018259.6

p.E73G

c.218A>G

exact variant not in gnomAD18 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."