Varaico: Literature-Extracted Genetic Variants

Gene:RNF139
Variant:p.N611S

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.N611S
c.1832A>G
Surrounding Variants
1 paper
NM_007218.4
p.P609L
c.1826C>T
1 paper
NM_007218.4
p.E616K
c.1846G>A
1 paper
NM_007218.4
p.C585Y
c.1754G>A
2 papers
NM_007218.4
p.D580N
c.1738G>A
1 paper
NM_007218.4
p.Q579E
c.1735C>G
1 paper
NM_007218.4
p.I578M
c.1734T>G
1 paper
NM_007218.4
p.I578V
c.1732A>G
1 paper
NM_007218.4
p.Q650R
c.1949A>G
1 paper
NM_007218.4
p.A654T
c.1960G>A
1 paper
NM_007218.4
p.Y566F
c.1697A>T
1 paper
NM_007218.4
p.P562L
c.1685C>T
1 paper
NM_007218.4
p.T561_P562insT
c.1681_1685ins3
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."