Varaico: Literature-Extracted Genetic Variants

Gene:RNF139
Variant:p.A525P

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.A525P
c.1573G>C
Surrounding Variants
1 paper
NM_007218.4
p.K528_I529del2
c.1582_1586del6
1 paper
NM_007218.4
p.Q511K
c.1531C>A
1 paper
NM_007218.4
p.R539H
c.1616G>A
1 paper
NM_007218.4
p.C547S
c.1639T>A
1 paper
NM_007218.4
p.C547R
c.1639T>C
1 paper
NM_007218.4
p.C547S
c.1640G>C
1 paper
NM_007218.4
p.C550S
c.1648T>A
1 paper
NM_007218.4
p.C550S
c.1649G>C
1 paper
NM_007218.4
p.F498C
c.1493T>G
1 paper
NM_007218.4
p.T556I
c.1667C>T
1 paper
NM_007218.4
p.E490K
c.1468G>A
1 paper
NM_007218.4
p.T561_P562insT
c.1681_1685ins3
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