Varaico: Literature-Extracted Genetic Variants

Gene:RNF128
Variant:p.V195L

RNF128

88 papers

RefSeq Summary

The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin li...

Pfam Domains

PAaa 80–179UCSCPA domain
zf-RING_2aa 275–318UCSCRing finger domain
zf-RING_2aa 275–318UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 128

HGNC Alias Symbols

FLJ23516; GRAIL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_194463.2
p.V195L
c.583G>T
Surrounding Variants
1 paper
NM_194463.2
p.V195L
c.583G>C
4 papers
NM_194463.2
p.N204Y
c.610A>T
1 paper
NM_194463.2
p.S182F
c.545C>T
1 paper
NM_194463.2
p.L180L
c.538C>T
1 paper
NM_194463.2
p.F216delFs
c.648delT
1 paper
NM_194463.2
p.F216fs
c.646_647fs
1 paper
NM_194463.2
p.N173_L174insFs
c.519_520insC
1 paper
NM_194463.2
p.I169delFs
c.507delC
1 paper
NM_194463.2
p.S230_A231delFs
c.689_692del4
1 paper
NM_194463.2
p.A237S
c.709G>T
1 paper
NM_194463.2
p.Q240*
c.718C>T
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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."