Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.V160G

ATG2B

137 papers

RefSeq Summary

This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposi...

Pfam Domains

ATG2_CADaa 9–1572UCSCAutophagy-related protein 2
ATG2_CADaa 1577–2074UCSCAutophagy-related protein 2

Gene Aliases

HGNC Name

autophagy related 2B

HGNC Previous Symbol

C14orf103

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018036.7
p.V160G
c.479T>G
Surrounding Variants
1 paper
NM_018036.7
p.R163delFs
c.488delC
1 paper
NM_018036.7
p.L161_R163del3
c.481_488del9
1 paper
NM_018036.7
p.H177R
c.530A>G
1 paper
NM_018036.7
p.E180D
c.540A>T
1 paper
NM_018036.7
p.T184delFs
c.551delG
1 paper
NM_018036.7
p.E193Q
c.577G>C
1 paper
NM_018036.7
p.T159delFs
c.476delG
1 paper
NM_018036.7
p.E151G
c.452A>G
1 paper
NM_018036.7
p.G149_L150delFs
c.447_448delGT
1 paper
NM_018036.7
p.E148_G149delFs
c.442_446del5
1 paper
NM_018036.7
p.P146insFs
c.437dupC
1 paper
NM_018036.7
p.P146L
c.437C>T
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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."