Varaico: Literature-Extracted Genetic Variants

Gene:RETREG3
Variant:p.E251A

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.E251A
c.752A>C
Surrounding Variants
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
1 paper
NM_178126.4
p.D315Splc
c.944-1G>C
1 paper
NM_178126.4
p.M338T
c.1013T>C
1 paper
NM_178126.4
p.Y358C
c.1073A>G
1 paper
NM_178126.4
p.R359H
c.1076G>A
1 paper
NM_178126.4
p.S360Y
c.1079C>A
1 paper
NM_178126.4
p.G363V
c.1088G>T
1 paper
NM_178126.4
p.P367R
c.1100C>G
1 paper
NM_178126.4
p.A413S
c.1237G>T
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