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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZC3H8

Variant:p.Q38L

ZC3H8

2q14.1 (UCSC)OMIM GTEx

16 papers

Pfam Domains

zf-CCCHaa 192–217UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

zf_CCCH_4aa 226–244UCSCZinc finger domain

zf-CCCH_9aa 247–284UCSCKIAA1064-like, CCCH zinc finger

Gene Aliases

HGNC Name

zinc finger CCCH-type containing 8

HGNC Previous Symbol

ZC3HDC8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:112250234 T>A

NM_032494.3

p.Q38L

c.113A>T

exact variant not in gnomAD149 overlapping SVs

Surrounding Variants

chr2:112250208 C>T

NM_032494.3

p.E47K

c.139G>A

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=18, hom=0)149 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."