Varaico: Literature-Extracted Genetic Variants

Gene:ARL6IP1
Variant:p.D34V

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.D34V
c.101A>T
Surrounding Variants
1 paper
NM_015161.3
p.V36del1
c.106_108delGAC
4 papers
NM_015161.3
p.L31P
c.92T>C
8 papers
NM_015161.3
p.R38*
c.112C>T
1 paper
NM_015161.3
p.R38Q
c.113G>A
1 paper
NM_015161.3
p.W39*
c.117G>A
1 paper
NM_015161.3
p.K35_E40del0
c.105_119del15
1 paper
NM_015161.3
p.W39_R41delins
c.116_122delinsC
1 paper
NM_015161.3
p.A42G
c.125C>G
1 paper
NM_015161.3
p.W43_F44del1
c.129_131delAAC
1 paper
NM_015161.3
p.R41_P45del0
c.123_134del12
1 paper
NM_015161.3
p.R41_P46del0
c.121_138del18
1 paper
NM_015161.3
p.R38_P46del0
c.112_138del27
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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."