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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOC1L

EXOC1L

4q12 (UCSC)GTEx

2 papers

Pfam Domains

Sec3-PIP2_bindaa 30–120UCSCExocyst complex component SEC3 N-terminal PIP2 binding PH

Gene Aliases

HGNC Name

exocyst complex component 1 like

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr4:55820068 T>A

NM_001351574.3

p.F14L

c.42T>A

exact variant not in gnomAD69 overlapping SVs

chr4:55837092 C>A

NM_001351574.3

p.P87Q

c.260C>A

exact variant not in gnomAD68 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."