Varaico: Literature-Extracted Genetic Variants

Gene:RNF128
Variant:p.L390Q

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.L390Q
c.1169T>A
Surrounding Variants
1 paper
NM_194463.2
p.E394K
c.1180G>A
1 paper
NM_194463.2
p.P404A
c.1210C>G
1 paper
NM_194463.2
p.N408S
c.1223A>G
1 paper
NM_194463.2
p.F411L
c.1231T>C
1 paper
NM_194463.2
p.F411L
c.1233T>A
1 paper
NM_194463.2
p.F411L
c.1233T>G
1 paper
NM_194463.2
p.E413_E415delFs
c.1239_1243del5
1 paper
NM_194463.2
p.T416P
c.1246A>C
1 paper
NM_194463.2
p.P375L
c.1124C>T
1 paper
NM_194463.2
p.V329M
c.985G>A
1 paper
NM_194463.2
p.E328D
c.984G>C
1 paper
NM_194463.2
p.E328D
c.984G>T
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