Varaico: Literature-Extracted Genetic Variants

Gene:RNF139
Variant:p.S72ins1

RNF139

68 papers

RefSeq Summary

The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase ...

Pfam Domains

TRC8_Naa 19–516UCSCTRC8 N-terminal domain
zf-RING_2aa 545–586UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 139

HGNC Alias Symbols

TRC8; RCA1; HRCA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007218.4
p.S72ins1
c.214_215insGCC
Surrounding Variants
1 paper
NM_007218.4
p.R74Q
c.221G>A
1 paper
NM_007218.4
p.I67V
c.199A>G
1 paper
NM_007218.4
p.F63Y
c.188T>A
1 paper
NM_007218.4
p.Y98C
c.293A>G
1 paper
NM_007218.4
p.N110D
c.328A>G
1 paper
NM_007218.4
p.T111K
c.332C>A
1 paper
NM_007218.4
p.L118P
c.353T>C
1 paper
NM_007218.4
p.R121_K122delFs
c.363_364delAA
1 paper
NM_007218.4
p.L126P
c.377T>C
1 paper
NM_007218.4
p.I150M
c.450C>G
1 paper
NM_007218.4
p.E176_T177delFs
c.528_529delGA
1 paper
NM_007218.4
p.E176fs
c.526_527fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."