Varaico: Literature-Extracted Genetic Variants

Gene:RETREG2

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
1–12 of 53 variants
4 papers
NM_024293.6
p.P419Q
c.1256C>A
3 papers
NM_024293.6
p.R374H
c.1121G>A
3 papers
NM_024293.6
p.N413S
c.1238A>G
2 papers
NM_024293.6
p.S145*
c.434C>A
2 papers
NM_024293.6
p.S145*
c.434C>G
2 papers
NM_024293.6
p.I207F
c.619A>T
2 papers
NM_024293.6
p.I317V
c.949A>G
2 papers
NM_024293.6
p.Q538P
c.1613A>C
1 paper
NM_024293.6
p.G8_N9delFs
c.24_25delTA
1 paper
NM_024293.6
p.S21R
c.61A>C
1 paper
NM_024293.6
p.S21R
c.63C>A
1 paper
NM_024293.6
p.S21R
c.63C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."