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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTLL11

Variant:p.Y596C

TTLL11

9q33.2 (UCSC)OMIM GTEx

26 papers

Pfam Domains

TTLaa 173–480UCSCTubulin-tyrosine ligase family

EF_TTLL11aa 533–662UCSCTubulin polyglutamylase TTLL11, EF-hand

Gene Aliases

HGNC Name

tubulin tyrosine ligase like 11

HGNC Previous Symbols

C9orf20; TTLL11-IT1; C9orf148

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:121860390 T>C

NM_001139442.2

p.Y596C

c.1787A>G

exact variant not in gnomAD14 overlapping SVs

Surrounding Variants

chr9:121860357 G>A

NM_001139442.2

p.T607I

c.1820C>T

exact variant not in gnomAD14 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."