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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WWC3

Variant:p.K279R

WWC3

Xp22.2 (UCSC)OMIM GTEx

3 papers

RefSeq Summary

This gene encodes a member of the WWC family of proteins, which also includes the WWC1 (KIBRA) gene product and the WWC2 gene product. The protein encoded by this gene includes a C2 domain, which is k...

Pfam Domains

WWaa 61–90UCSCWW domain

WWC1aa 350–484UCSCWWC1-like, helical hairpin

Gene Aliases

HGNC Name

WWC family member 3

HGNC Alias Symbols

KIAA1280; BM042

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chrX:10090854 A>G

NM_015691.5

p.K279R

c.836A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

Surrounding Variants

chrX:10090782 A>AT

NM_015691.5

p.K255insFs

c.764_765insT

exact variant not in gnomAD14 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."