Varaico: Literature-Extracted Genetic Variants

Gene:ARL6IP1
Variant:p.K133T

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
Selected Variant
1 paper
NM_015161.3
p.K133T
c.398A>C
Surrounding Variants
1 paper
NM_015161.3
p.R125C
c.373C>T
1 paper
NM_015161.3
p.A119G
c.356C>G
1 paper
NM_015161.3
p.A119T
c.355G>A
1 paper
NM_015161.3
p.R117C
c.349C>T
4 papers
NM_015161.3
p.R116*
c.346C>T
1 paper
NM_015161.3
p.R104*
c.310A>T
1 paper
NM_015161.3
p.S144P
c.430T>C
1 paper
NM_015161.3
p.S144F
c.431C>T
1 paper
NM_015161.3
p.Y162S
c.485A>C
1 paper
NM_015161.3
p.K188fs
c.562_563fs
1 paper
NM_015161.3
p.A187delFs
c.561delG
1 paper
NM_015161.3
p.R189K
c.566G>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."