Varaico: Literature-Extracted Genetic Variants

Gene:RNF139
Variant:p.W19L

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.W19L
c.56G>T
Surrounding Variants
1 paper
NM_007218.4
p.H15Q
c.45T>A
1 paper
NM_007218.4
p.H15Q
c.45T>G
1 paper
NM_007218.4
p.H15_Q16insGCC
c.43_47ins9
1 paper
NM_007218.4
p.M13fs
c.37_38fs
1 paper
NM_007218.4
p.M13delFs
c.37_38delAT
1 paper
NM_007218.4
p.C30C
c.90C>T
1 paper
NM_007218.4
p.I33V
c.97A>G
1 paper
NM_007218.4
p.G5_P6ins1
c.15_16insGCC
1 paper
NM_007218.4
p.I37_F38del2
c.109_113del6
1 paper
NM_007218.4
p.M1R
c.2T>G
1 paper
NM_007218.4
p.F38L
c.112T>C
1 paper
NM_007218.4
p.F38L
c.114C>A
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