Varaico: Literature-Extracted Genetic Variants

Gene:RETREG2
Variant:p.A46A

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.A46A
c.138C>T
Surrounding Variants
1 paper
NM_024293.6
p.A53T
c.157G>A
1 paper
NM_024293.6
p.L24_G25del2
c.70_74del6
1 paper
NM_024293.6
p.S21R
c.63C>A
1 paper
NM_024293.6
p.S21R
c.63C>G
1 paper
NM_024293.6
p.S21R
c.61A>C
1 paper
NM_024293.6
p.G8_N9delFs
c.24_25delTA
1 paper
NM_024293.6
p.S99_S100del0
c.295_300del6
1 paper
NM_024293.6
p.S129delFs
c.386_387delCA
1 paper
NM_024293.6
p.A130Splc
c.389-180A>C
1 paper
NM_024293.6
p.P136P
c.408A>G
2 papers
NM_024293.6
p.S145*
c.434C>A
2 papers
NM_024293.6
p.S145*
c.434C>G
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