Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.A307delFs

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.A307delFs
c.921delA
Surrounding Variants
1 paper
NM_018036.7
p.L304delFs
c.912delA
1 paper
NM_018036.7
p.G290D
c.869G>A
1 paper
NM_018036.7
p.I277V
c.829A>G
1 paper
NM_018036.7
p.P275L
c.824C>T
1 paper
NM_018036.7
p.E265D
c.795G>T
1 paper
NM_018036.7
p.E265D
c.795G>C
1 paper
NM_018036.7
p.I263F
c.787A>T
1 paper
NM_018036.7
p.N259delFs
c.777delG
1 paper
NM_018036.7
p.E251_P252del1
c.752_754delGCT
2 papers
NM_018036.7
p.K238I
c.713A>T
1 paper
NM_018036.7
p.A235T
c.703G>A
1 paper
NM_018036.7
p.L228_F229del2
c.682_686del6
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