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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAM193B

Variant:p.G68D

FAM193B

5q35.3 (UCSC)OMIM GTEx

53 papers

Pfam Domains

FAM193_Caa 846–900UCSCFAM193 family C-terminal

Gene Aliases

HGNC Name

family with sequence similarity 193 member B

HGNC Alias Symbols

KIAA1931; FLJ10404; IRIZIO

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:177554256 C>T

NM_001190946.3

p.G68D

c.203G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

Surrounding Variants

chr5:177554344 C>G

NM_001190946.3

p.A39P

c.115G>C

exact variant not in gnomAD13 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."