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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDC42SE2

Variant:p.E14D

CDC42SE2

5q31.1 (UCSC)OMIM GTEx

9 papers

Pfam Domains

PBDaa 28–50UCSCP21-Rho-binding domain

Gene Aliases

HGNC Name

CDC42 small effector 2

HGNC Alias Symbols

FLJ21967; SPEC2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:131359535 A>C

NM_001375635.1

p.E14D

c.42A>C

exact variant not in gnomAD64 overlapping SVs

Surrounding Variants

chr5:131359535 A>T

NM_001375635.1

p.E14D

c.42A>T

exact variant not in gnomAD64 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."