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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CERS6

Variant:p.Q70E

CERS6

2q24.3 (UCSC)OMIM GTEx

23 papers

Pfam Domains

Homeodomainaa 80–126UCSCHomeodomain

TRAM_LAG1_CLN8aa 131–324UCSCTLC domain

Gene Aliases

HGNC Name

ceramide synthase 6

HGNC Previous Symbol

LASS6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:168547633 C>G

NM_203463.3

p.Q70E

c.208C>G

exact variant not in gnomAD129 overlapping SVs

Surrounding Variants

chr2:168547658 C>T

NM_203463.3

p.P78L

c.233C>T

Exome: 0.0% (AC=313, hom=1)Genome: 0.0% (AC=10, hom=0)129 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."