Varaico: Literature-Extracted Genetic Variants

Gene:RETREG3
Variant:p.V147D

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
Selected Variant
1 paper
NM_178126.4
p.V147D
c.440T>A
Surrounding Variants
1 paper
NM_178126.4
p.H143N
c.427C>A
1 paper
NM_178126.4
p.S193P
c.577T>C
1 paper
NM_178126.4
p.N124T
c.371A>C
1 paper
NM_178126.4
p.P117S
c.349C>T
1 paper
NM_178126.4
p.R210*
c.628C>T
1 paper
NM_178126.4
p.R218W
c.652C>T
1 paper
NM_178126.4
p.R231C
c.691C>T
1 paper
NM_178126.4
p.E251A
c.752A>C
1 paper
NM_178126.4
p.S260N
c.779G>A
1 paper
NM_178126.4
p.E263K
c.787G>A
1 paper
NM_178126.4
p.G298S
c.892G>A
1 paper
NM_178126.4
p.L302L
c.906T>C
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