Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.D138_Q140del0

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.D138_Q140del0
c.414_419del6
Surrounding Variants
1 paper
NM_018036.7
p.D138Y
c.412G>T
1 paper
NM_018036.7
p.D138insFs
c.412_413insT
1 paper
NM_018036.7
p.T137insFs
c.411dupA
1 paper
NM_018036.7
p.T137R
c.410C>G
1 paper
NM_018036.7
p.K135_T137delFs
c.405_409del5
1 paper
NM_018036.7
p.P146L
c.437C>T
1 paper
NM_018036.7
p.P146insFs
c.437dupC
1 paper
NM_018036.7
p.Q134*
c.400C>T
1 paper
NM_018036.7
p.E148_G149delFs
c.442_446del5
1 paper
NM_018036.7
p.G149_L150delFs
c.447_448delGT
1 paper
NM_018036.7
p.E151G
c.452A>G
1 paper
NM_018036.7
p.A128A
c.384A>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."