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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EHD4

Variant:p.I168L

EHD4

15q15.1 (UCSC)OMIM GTEx

39 papers

Pfam Domains

EHD_Naa 27–59UCSCN-terminal EH-domain containing protein

Dynamin_Naa 64–224UCSCDynamin family

DUF5600aa 291–397UCSCDomain of unknown function (DUF5600)

EHaa 443–541UCSCEH domain

Gene Aliases

HGNC Name

EH domain containing 4

HGNC Previous Symbol

PAST4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr15:41943076 T>G

NM_139265.4

p.I168L

c.502A>C

exact variant not in gnomAD12 overlapping SVs

Surrounding Variants

chr15:41943118 C>T

NM_139265.4

p.V154I

c.460G>A

Exome: 15.6% (AC=224957, hom=19037)Genome: 12.8% (AC=19461, hom=1601)12 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."