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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZDHHC11B

Variant:p.M1R

ZDHHC11B

5p15.33 (UCSC)GTEx

17 papers

Pfam Domains

DHHCaa 120–275UCSCDHHC palmitoyltransferase

Gene Aliases

HGNC Name

zDHHC palmitoyltransferase 11B (putative)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:766918 A>C

NM_001351303.2

p.M1R

c.2T>G

Exome: 72.1% (AC=1047843, hom=359430)Genome: 73.8% (AC=111287, hom=38864)11 overlapping SVs

Surrounding Variants

chr5:766916 C>T

NM_001351303.2

p.D2N

c.4G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)11 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."