Varaico: Literature-Extracted Genetic Variants

Gene:RETREG2
Variant:p.A520T

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.A520T
c.1558G>A
Surrounding Variants
1 paper
NM_024293.6
p.P514L
c.1541C>T
2 papers
NM_024293.6
p.Q538P
c.1613A>C
1 paper
NM_024293.6
p.D496H
c.1486G>C
1 paper
NM_024293.6
p.E485V
c.1454A>T
1 paper
NM_024293.6
p.E485Q
c.1453G>C
1 paper
NM_024293.6
p.E485del1
c.1453_1454delGAG
1 paper
NM_024293.6
p.E484Q
c.1450G>C
1 paper
NM_024293.6
p.E484_E485del1
c.1452_1454delAGA
1 paper
NM_024293.6
p.P471S
c.1411C>T
1 paper
NM_024293.6
p.P462T
c.1384C>A
1 paper
NM_024293.6
p.L453F
c.1357C>T
1 paper
NM_024293.6
p.G441D
c.1322G>A
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