Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.S493_R494del2

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.S493_R494del2
c.1477_1481del6
Surrounding Variants
1 paper
NM_018036.7
p.D499G
c.1496A>G
3 papers
NM_018036.7
p.P526A
c.1576C>G
3 papers
NM_018036.7
p.T529M
c.1586C>T
1 paper
NM_018036.7
p.N532D
c.1594A>G
1 paper
NM_018036.7
p.A540T
c.1618G>A
1 paper
NM_018036.7
p.R577K
c.1730G>A
2 papers
NM_018036.7
p.N479S
c.1436A>G
1 paper
NM_018036.7
p.E468D
c.1404A>T
1 paper
NM_018036.7
p.E468D
c.1404A>C
1 paper
NM_018036.7
p.T458T
c.1374T>C
2 papers
NM_018036.7
p.V454M
c.1360G>A
1 paper
NM_018036.7
p.G447_S448del2
c.1339_1343del6
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