Varaico: Literature-Extracted Genetic Variants

Gene:RETREG2
Variant:p.N413S

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
3 papers
NM_024293.6
p.N413S
c.1238A>G
Surrounding Variants
4 papers
NM_024293.6
p.P419Q
c.1256C>A
1 paper
NM_024293.6
p.D420fs
c.1258_1259fs
1 paper
NM_024293.6
p.V392E
c.1175T>A
1 paper
NM_024293.6
p.D391E
c.1173T>A
1 paper
NM_024293.6
p.D391E
c.1173T>G
1 paper
NM_024293.6
p.D391V
c.1172A>T
1 paper
NM_024293.6
p.E386_E387del2
c.1156_1160del6
1 paper
NM_024293.6
p.G441D
c.1322G>A
3 papers
NM_024293.6
p.R374H
c.1121G>A
1 paper
NM_024293.6
p.L453F
c.1357C>T
1 paper
NM_024293.6
p.P462T
c.1384C>A
1 paper
NM_024293.6
p.P471S
c.1411C>T
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