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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLXN

CLXN

8q11.21 (UCSC)OMIM GTEx

6 papers

Pfam Domains

EF-hand_7aa 102–175UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calaxin

HGNC Alias Symbols

FLJ11767; ODAD5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr8:48731401 C>T

NM_024593.4

p.R54Q

c.161G>A

Exome: 0.6% (AC=8617, hom=37)Genome: 0.4% (AC=620, hom=3)20 overlapping SVs

chr8:48729825 C>T

NM_024593.4

p.K122K

c.366G>A

exact variant not in gnomAD20 overlapping SVs

chr8:48729770 C>G

NM_024593.4

p.D141H

c.421G>C

exact variant not in gnomAD20 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."