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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMIM20

SMIM20

4p15.2 (UCSC)OMIM GTEx

5 papers

Pfam Domains

MITRAC7_Phoenixinaa 2–58UCSCMITRAC7/Phoenixin family

Gene Aliases

HGNC Name

small integral membrane protein 20

HGNC Previous Symbol

C4orf52

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr4:25914335 G>A

NM_001145432.3

p.A8T

c.22G>A

MITRAC7_Phoenixin

Exome: 0.5% (AC=7203, hom=294)Genome: 1.0% (AC=1591, hom=64)47 overlapping SVs

chr4:25914353 T>TNNNNNNNNNNNNNN

NM_001145432.3

p.F14insFs

c.40_41ins14

MITRAC7_Phoenixin

exact variant not in gnomAD47 overlapping SVs

chr4:25914362 C>G

NM_001145432.3

p.L17V

c.49C>G

MITRAC7_Phoenixin

exact variant not in gnomAD47 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."