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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSBP1L1

HSBP1L1

18q23 (UCSC)GTEx

2 papers

Pfam Domains

HSBP1aa 12–62UCSCHeat shock factor binding protein 1

Gene Aliases

HGNC Name

heat shock factor binding protein 1 like 1

HGNC Alias Symbols

FLJ10967; MGC189743

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr18:79968135 G>C

NM_001136180.2

p.K55N

c.165G>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

chr18:79968135 G>T

NM_001136180.2

p.K55N

c.165G>T

Exome: 83.2% (AC=1161204, hom=484387)Genome: 78.6% (AC=119632, hom=47730)18 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."