Varaico: Literature-Extracted Genetic Variants

Gene:RETREG3

RETREG3

33 papers

Pfam Domains

RHD_RETREG1-3aa 47–230UCSCRETREG1-3/ARL6IP-like, N-terminal reticulon-homology domain

Gene Aliases

HGNC Name

reticulophagy regulator family member 3

HGNC Previous Symbol

FAM134C

Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
1 paper
NM_178126.4
p.E3K
c.7G>A
1 paper
NM_178126.4
p.A4T
c.10G>A
1 paper
NM_178126.4
p.P8S
c.22C>T
1 paper
NM_178126.4
p.A14S
c.40G>T
1 paper
NM_178126.4
p.G27S
c.79G>A
1 paper
NM_178126.4
p.L46M
c.136C>A
1 paper
NM_178126.4
p.R64R
c.192G>A
1 paper
NM_178126.4
p.W80Splc
c.240-290C>T
1 paper
NM_178126.4
p.P117S
c.349C>T
1 paper
NM_178126.4
p.N124T
c.371A>C
1 paper
NM_178126.4
p.H143N
c.427C>A
1 paper
NM_178126.4
p.V147D
c.440T>A
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