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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFAP210

Variant:p.M1del1

CFAP210

2q31.1 (UCSC)GTEx

40 papers

Pfam Domains

TPHaa 145–490UCSCTrichohyalin-plectin-homology domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 210

HGNC Previous Symbols

C2orf77; CCDC173

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:169694324 CCAT>C

NM_001085447.2

p.M1del1

c.1_2delCAT

exact variant not in gnomAD131 overlapping SVs

Surrounding Variants

chr2:169694300 G>A

NM_001085447.2

p.R10W

c.28C>T

exact variant not in gnomAD131 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."