Varaico: Literature-Extracted Genetic Variants

Gene:RNF128
Variant:p.D130H

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.D130H
c.388G>C
Surrounding Variants
1 paper
NM_194463.2
p.G123S
c.367G>A
1 paper
NM_194463.2
p.A118P
c.352G>C
1 paper
NM_194463.2
p.F148S
c.443T>C
1 paper
NM_194463.2
p.G109_G125delFs
c.327_373del47
1 paper
NM_194463.2
p.P105A
c.313C>G
1 paper
NM_194463.2
p.T103M
c.308C>T
1 paper
NM_194463.2
p.C96insFs
c.287_288insC
2 papers
NM_194463.2
p.L93I
c.277C>A
1 paper
NM_194463.2
p.G91R
c.271G>C
2 papers
NM_194463.2
p.D88Y
c.262G>T
1 paper
NM_194463.2
p.P54A
c.160C>G
1 paper
NM_194463.2
p.V53I
c.157G>A
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