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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC158

Variant:p.S28*

CCDC158

4q21.1 (UCSC)OMIM GTEx

63 papers

Pfam Domains

CCDC158aa 1–1113UCSCCoiled-coil domain-containing protein 158

Gene Aliases

HGNC Name

coiled-coil domain containing 158

HGNC Alias Symbol

FLJ25770

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr4:76396474 G>T

NM_001394954.1

p.S28*

c.83C>A

exact variant not in gnomAD91 overlapping SVs

Surrounding Variants

chr4:76396474 G>C

NM_001394954.1

p.S28*

c.83C>G

exact variant not in gnomAD91 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."