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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYLC1

Variant:p.R5T

CYLC1

Xq21.1 (UCSC)OMIM GTEx

64 papers

RefSeq Summary

This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [prov...

Pfam Domains

Cylicin_Naa 7–67UCSCCylicin N-terminus

Cylicin_Naa 8–114UCSCCylicin N-terminus

Gene Aliases

HGNC Name

cylicin 1

HGNC Previous Name

cylicin, basic protein of sperm head cytoskeleton 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chrX:83861196 G>C

NM_021118.3

p.R5T

c.14G>C

Exome: 1.6% (AC=17151, hom=158)Genome: 1.1% (AC=1248, hom=9)60 overlapping SVs

Surrounding Variants

chrX:83869866 C>T

NM_021118.3

p.L7L

c.19C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a60 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."