Varaico: Literature-Extracted Genetic Variants

Gene:RNF135
Variant:p.L48delFs

RNF135

59 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

zf-C3HC4_4aa 21–62UCSCzinc finger of C3HC4-type, RING
SPRYaa 312–425UCSCSPRY domain

Gene Aliases

HGNC Name

ring finger protein 135

HGNC Alias Symbol

MGC13061

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032322.4
p.L48delFs
c.142delC
Surrounding Variants
1 paper
NM_032322.4
p.L48fs
c.142_143fs
1 paper
NM_032322.4
p.R52delFs
c.154delC
1 paper
NM_032322.4
p.C59Y
c.176G>A
1 paper
NM_032322.4
p.T33A
c.97A>G
2 papers
NM_032322.4
p.H71Q
c.213C>A
2 papers
NM_032322.4
p.H71Q
c.213C>G
1 paper
NM_032322.4
p.W13*
c.39G>A
1 paper
NM_032322.4
p.A82T
c.244G>A
1 paper
NM_032322.4
p.G7S
c.19G>A
1 paper
NM_032322.4
p.G5S
c.13G>A
1 paper
NM_032322.4
p.G3C
c.7G>T
1 paper
NM_032322.4
p.P98A
c.292C>G
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