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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPB41L4B

Variant:p.V73M

EPB41L4B

9q31.3 (UCSC)OMIM GTEx

44 papers

Pfam Domains

FERM_Naa 89–152UCSCFERM N-terminal domain

FERM_Maa 167–277UCSCFERM central domain

FERM_Caa 281–373UCSCFERM C-terminal PH-like domain

FAaa 379–420UCSCFERM adjacent (FA)

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1 like 4B

HGNC Alias Symbols

EHM2; LULU2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:109320230 C>T

NM_019114.5

p.V73M

c.217G>A

Exome: 16.7% (AC=195655, hom=16273)Genome: 11.9% (AC=17775, hom=1378)18 overlapping SVs

Surrounding Variants

chr9:109320206 C>T

NM_019114.5

p.A81T

c.241G>A

Exome: 0.0% (AC=9, 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."