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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GRAMD1C

Variant:p.E36G

GRAMD1C

3q13.31 (UCSC)OMIM GTEx

33 papers

Pfam Domains

GRAMaa 69–178UCSCGRAM domain

VAStaa 329–477UCSCVAD1 Analog of StAR-related lipid transfer domain

Gene Aliases

HGNC Name

GRAM domain containing 1C

HGNC Alias Symbol

DKFZp434C0328

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:113844582 A>G

NM_017577.5

p.E36G

c.107A>G

exact variant not in gnomAD73 overlapping SVs

Surrounding Variants

chr3:113844621 A>G

NM_017577.5

p.H49R

c.146A>G

Exome: 0.0% (AC=86, hom=1)Genome: 0.0% (AC=9, hom=0)73 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."