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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIM54

Variant:p.G12R

TRIM54

45 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and...

Pfam Domains

zf-RING_UBOXaa 26–79UCSCRING-type zinc-finger

zf-B_boxaa 121–163UCSCB-box zinc finger

Gene Aliases

HGNC Name

tripartite motif containing 54

HGNC Previous Symbol

RNF30

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:27282765 G>C

NM_187841.3

p.G12R

c.34G>C

exact variant not in gnomAD77 overlapping SVs

Surrounding Variants

1 paper

chr2:27282765 G>A

NM_187841.3

p.G12R

c.34G>A

Exome: 0.0% (AC=258, hom=2)Genome: 0.0% (AC=10, hom=0)77 overlapping SVs

1 paper

chr2:27282757 C>T

NM_187841.3

p.P9L

c.26C>T

Exome: 0.0% (AC=64, hom=0)Genome: 0.0% (AC=1, hom=0)77 overlapping SVs

1 paper

chr2:27282798 C>G

NM_187841.3

p.Q23E

c.67C>G

exact variant not in gnomAD77 overlapping SVs

1 paper

chr2:27282812 C>T

NM_187841.3

p.P27P

c.81C>T

zf-RING_UBOX

Exome: 0.1% (AC=815, hom=6)Genome: 0.5% (AC=770, hom=4)77 overlapping SVs

1 paper

chr2:27282890 C>T

NM_187841.3

p.D53D

c.159C>T

zf-RING_UBOX

Exome: 5.7% (AC=83653, hom=2783)Genome: 4.6% (AC=6971, hom=223)77 overlapping SVs

2 papers

chr2:27282891 G>A

NM_187841.3

p.V54I

c.160G>A

zf-RING_UBOX

Exome: 0.0% (AC=10, hom=0)Genome: n/a77 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."