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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTUS2

Variant:p.Q1293K

MTUS2

13q12.3 (UCSC)OMIM GTEx

60 papers

Pfam Domains

MTUS1_CCDC69_CC2aa 1232–1303UCSCMTUS1/CCDC69 family second coiled-coil domain

Gene Aliases

HGNC Name

microtubule associated scaffold protein 2

HGNC Previous Symbol

KIAA0774

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr13:29501175 C>A

NM_001033602.4

p.Q1293K

c.3877C>A

MTUS1_CCDC69_CC2

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

chr13:29503193 C>T

NM_001033602.4

p.T1366I

c.4097C>T

exact variant not in gnomAD7 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."