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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEPDC1B

Variant:p.R4G

DEPDC1B

5q12.1 (UCSC)OMIM GTEx

33 papers

Pfam Domains

DEPaa 27–106UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

RhoGAPaa 258–351UCSCRhoGAP domain

TOE2_Caa 448–490UCSCTarget of ERK kinase mpk-1 C-terminal domain

Gene Aliases

HGNC Name

DEP domain containing 1B

HGNC Alias Symbol

XTP1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:60700084 G>C

NM_018369.3

p.R4G

c.10C>G

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=1, hom=0)74 overlapping SVs

Surrounding Variants

chr5:60700084 G>A

NM_018369.3

p.R4C

c.10C>T

Exome: 0.0% (AC=266, hom=2)Genome: 0.0% (AC=15, hom=0)74 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."