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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHH1

Variant:p.E22*

PLEKHH1

14q24.1 (UCSC)GTEx

87 papers

Pfam Domains

PHaa 579–672UCSCPH domain

MyTH4aa 880–984UCSCMyTH4 domain

RA_2aa 995–1102UCSCRA like domain

FERM_Maa 1101–1230UCSCFERM central domain

Gene Aliases

HGNC Name

pleckstrin homology, MyTH4 and FERM domain containing H1

HGNC Alias Symbol

KIAA1200

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr14:67541931 G>T

NM_020715.3

p.E22*

c.64G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

Surrounding Variants

chr14:67541986 C>T

NM_020715.3

p.A40V

c.119C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a18 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."