Varaico: Literature-Extracted Genetic Variants

Gene:RNF139
Variant:p.L238P

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.L238P
c.713T>C
Surrounding Variants
1 paper
NM_007218.4
p.R233C
c.697C>T
1 paper
NM_007218.4
p.V246I
c.736G>A
2 papers
NM_007218.4
p.Y219Y
c.657C>T
1 paper
NM_007218.4
p.F266_F267del1
c.798_800delCTT
1 paper
NM_007218.4
p.F267del1
c.799_800delTTT
1 paper
NM_007218.4
p.S269Y
c.806C>A
1 paper
NM_007218.4
p.R206Q
c.617G>A
1 paper
NM_007218.4
p.R206*
c.616C>T
1 paper
NM_007218.4
p.L276L
c.828C>T
1 paper
NM_007218.4
p.K197E
c.589A>G
1 paper
NM_007218.4
p.D286N
c.856G>A
1 paper
NM_007218.4
p.T187_L188insFs
c.561_562insT
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