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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFCAB10

EFCAB10

7q22.3 (UCSC)GTEx

3 papers

Pfam Domains

EF_EFCAB10_Caa 15–70UCSCEFCAB10, C-terminal EF-hand

EF_EFCAB10_Caa 66–125UCSCEFCAB10, C-terminal EF-hand

Gene Aliases

HGNC Name

EF-hand calcium binding domain 10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr7:105581454 T>G

NM_001355526.2

p.S4R

c.10A>C

exact variant not in gnomAD94 overlapping SVs

chr7:105581452 G>C

NM_001355526.2

p.S4R

c.12C>G

exact variant not in gnomAD94 overlapping SVs

chr7:105581452 G>T

NM_001355526.2

p.S4R

c.12C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a94 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."