Varaico: Literature-Extracted Genetic Variants

Gene:RNF130
Variant:p.Q273H

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018434.6
p.Q273H
c.819G>C
Surrounding Variants
2 papers
NM_018434.6
p.Q273H
c.819G>T
1 paper
NM_018434.6
p.D275E
c.825T>G
1 paper
NM_018434.6
p.D275E
c.825T>A
1 paper
NM_018434.6
p.D262Y
c.784G>T
1 paper
NM_018434.6
p.G253S
c.757G>A
1 paper
NM_018434.6
p.K252N
c.756G>T
1 paper
NM_018434.6
p.K252N
c.756G>C
1 paper
NM_018434.6
p.A238S
c.712G>T
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