Varaico: Literature-Extracted Genetic Variants

Gene:RNF139
Variant:p.P373T

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.P373T
c.1117C>A
Surrounding Variants
1 paper
NM_007218.4
p.S379G
c.1135A>G
1 paper
NM_007218.4
p.V363_L364del2
c.1087_1091del6
1 paper
NM_007218.4
p.S353R
c.1059T>A
1 paper
NM_007218.4
p.S353R
c.1059T>G
1 paper
NM_007218.4
p.S353R
c.1057A>C
1 paper
NM_007218.4
p.I350T
c.1049T>C
1 paper
NM_007218.4
p.R348I
c.1043G>T
1 paper
NM_007218.4
p.P403H
c.1208C>A
1 paper
NM_007218.4
p.S407fs
c.1219_1220fs
1 paper
NM_007218.4
p.S407_Y408delFs
c.1220_1224del5
1 paper
NM_007218.4
p.A422V
c.1265C>T
1 paper
NM_007218.4
p.E429K
c.1285G>A
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