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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF130

Variant:p.Q44L

RNF130

25 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression...

Pfam Domains

PAaa 70–165UCSCPA domain

zf-RING_2aa 262–305UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 130

HGNC Alias Symbols

G1RZFP; GOLIATH

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:180071572 T>A

NM_018434.6

p.Q44L

c.131A>T

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=7, hom=0)13 overlapping SVs

Surrounding Variants

1 paper

chr5:180071560 C>A

NM_018434.6

p.R48L

c.143G>T

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

2 papers

chr5:180071595 C>T

NM_018434.6

p.T36T

c.108G>A

Exome: 62.0% (AC=834255, hom=260427)Genome: 56.3% (AC=85402, hom=24847)13 overlapping SVs

1 paper

chr5:180071658 G>T

NM_018434.6

p.L15L

c.45C>A

Exome: 44.0% (AC=569781, hom=128583)Genome: 36.2% (AC=54673, hom=11317)13 overlapping SVs

1 paper

chr5:180071677 G>A

NM_018434.6

p.P9L

c.26C>T

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=2, hom=0)13 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."