Varaico: Literature-Extracted Genetic Variants

Gene:RNF133
Variant:p.L239R

RNF133

34 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions....

Pfam Domains

PAaa 71–163UCSCPA domain
zf-RING_2aa 254–297UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 133

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_139175.2
p.L239R
c.716T>G
Surrounding Variants
2 papers
NM_139175.2
p.R240*
c.718C>T
2 papers
NM_139175.2
p.G245E
c.734G>A
1 paper
NM_139175.2
p.D246N
c.736G>A
1 paper
NM_139175.2
p.R217M
c.650G>T
1 paper
NM_139175.2
p.D267G
c.800A>G
1 paper
NM_139175.2
p.I268T
c.803T>C
1 paper
NM_139175.2
p.R270H
c.809G>A
1 paper
NM_139175.2
p.V192I
c.574G>A
2 papers
NM_139175.2
p.L301P
c.902T>C
1 paper
NM_139175.2
p.G170E
c.509G>A
1 paper
NM_139175.2
p.V309F
c.925G>T
1 paper
NM_139175.2
p.Q318H
c.954A>T
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