Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.L46delFs

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.L46delFs
c.138delG
Surrounding Variants
1 paper
NM_018036.7
p.A47G
c.140C>G
1 paper
NM_018036.7
p.G42insFs
c.125dupG
2 papers
NM_018036.7
p.W54delFs
c.161delC
1 paper
NM_018036.7
p.W54_C55Splc
c.162+13G>C
1 paper
NM_018036.7
p.E28D
c.84G>C
1 paper
NM_018036.7
p.Q27_E28insFs
c.81_82insA
1 paper
NM_018036.7
p.Y21Y
c.63C>T
1 paper
NM_018036.7
p.L18L
c.52C>T
1 paper
NM_018036.7
p.I9insFs
c.27dupC
1 paper
NM_018036.7
p.E7insFs
c.19dupG
1 paper
NM_018036.7
p.M1_F5del5
c.1_14del15
1 paper
NM_018036.7
p.P2delFs
c.6delA
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