Varaico: Literature-Extracted Genetic Variants

Gene:RETREG2
Variant:p.A300V

RETREG2

53 papers

Pfam Domains

RHD_RETREG1-3aa 61–247UCSCRETREG1-3/ARL6IP-like, N-terminal reticulon-homology domain

Gene Aliases

HGNC Name

reticulophagy regulator family member 2

HGNC Previous Symbols

C2orf17; FAM134A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024293.6
p.A300V
c.899C>T
Surrounding Variants
1 paper
NM_024293.6
p.D295Y
c.883G>T
1 paper
NM_024293.6
p.V293_V294Splc
c.880-13G>C
2 papers
NM_024293.6
p.I317V
c.949A>G
1 paper
NM_024293.6
p.A268V
c.803C>T
1 paper
NM_024293.6
p.G265V
c.794G>T
1 paper
NM_024293.6
p.Q264H
c.792G>C
1 paper
NM_024293.6
p.Q264H
c.792G>T
1 paper
NM_024293.6
p.E351E
c.1053G>A
1 paper
NM_024293.6
p.R355Q
c.1064G>A
3 papers
NM_024293.6
p.R374H
c.1121G>A
1 paper
NM_024293.6
p.A253A
c.759C>T
1 paper
NM_024293.6
p.E386_E387del2
c.1156_1160del6
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