Varaico: Literature-Extracted Genetic Variants

Gene:ARL6IP1

ARL6IP1

66 papers

RefSeq Summary

This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and t...

Pfam Domains

RHD_RETREG1-3aa 24–194UCSCRETREG1-3/ARL6IP-like, N-terminal reticulon-homology domain

Gene Aliases

HGNC Name

ARL6 interacting reticulophagy regulator 1

HGNC Alias Symbols

AIP1; ARMER; KIAA0069; SPG61

Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
8 papers
NM_015161.3
p.R38*
c.112C>T
4 papers
NM_015161.3
p.L31P
c.92T>C
4 papers
NM_015161.3
p.R116*
c.346C>T
4 papers
NM_015161.3
p.K193fs
c.577_578fs
4 papers
NM_015161.3
p.K193_L194delFs
c.577_580del4
1 paper
NM_015161.3
p.M1T
c.2T>C
1 paper
NM_015161.3
p.E3D
c.9G>T
1 paper
NM_015161.3
p.A17T
c.49G>A
1 paper
NM_015161.3
p.D34V
c.101A>T
1 paper
NM_015161.3
p.V36del1
c.106_108delGAC
1 paper
NM_015161.3
p.R38Q
c.113G>A
1 paper
NM_015161.3
p.W39*
c.117G>A
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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."