Varaico: Literature-Extracted Genetic Variants

Gene:RNF139
Variant:p.S183F

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.S183F
c.548C>T
Surrounding Variants
1 paper
NM_007218.4
p.T187fs
c.559_560fs
1 paper
NM_007218.4
p.T187_L188insFs
c.561_562insT
1 paper
NM_007218.4
p.E176fs
c.526_527fs
1 paper
NM_007218.4
p.E176_T177delFs
c.528_529delGA
1 paper
NM_007218.4
p.K197E
c.589A>G
1 paper
NM_007218.4
p.R206*
c.616C>T
1 paper
NM_007218.4
p.R206Q
c.617G>A
1 paper
NM_007218.4
p.I150M
c.450C>G
2 papers
NM_007218.4
p.Y219Y
c.657C>T
1 paper
NM_007218.4
p.R233C
c.697C>T
1 paper
NM_007218.4
p.L238P
c.713T>C
1 paper
NM_007218.4
p.L126P
c.377T>C
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