Varaico: Literature-Extracted Genetic Variants

Gene:RETREG2
Variant:p.P136P

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.P136P
c.408A>G
Surrounding Variants
1 paper
NM_024293.6
p.A130Splc
c.389-180A>C
2 papers
NM_024293.6
p.S145*
c.434C>A
2 papers
NM_024293.6
p.S145*
c.434C>G
1 paper
NM_024293.6
p.C158Y
c.473G>A
1 paper
NM_024293.6
p.L166fs
c.496_497fs
1 paper
NM_024293.6
p.L166V
c.496C>G
1 paper
NM_024293.6
p.F168Y
c.503T>A
1 paper
NM_024293.6
p.S129delFs
c.386_387delCA
1 paper
NM_024293.6
p.S99_S100del0
c.295_300del6
1 paper
NM_024293.6
p.A198V
c.593C>T
2 papers
NM_024293.6
p.I207F
c.619A>T
1 paper
NM_024293.6
p.A53T
c.157G>A
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