Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.L1989V

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
3 papers
NM_018036.7
p.L1989V
c.5965C>G
Surrounding Variants
1 paper
NM_018036.7
p.E1991*
c.5971G>T
1 paper
NM_018036.7
p.H1984P
c.5951A>C
1 paper
NM_018036.7
p.A1983T
c.5947G>A
1 paper
NM_018036.7
p.R1981delFs
c.5943delC
2 papers
NM_018036.7
p.R1981G
c.5941C>G
1 paper
NM_018036.7
p.P1978A
c.5932C>G
1 paper
NM_018036.7
p.F1977V
c.5929T>G
2 papers
NM_018036.7
p.S1963T
c.5887T>A
1 paper
NM_018036.7
p.E1942fs
c.5824_5825fs
1 paper
NM_018036.7
p.G1928D
c.5783G>A
1 paper
NM_018036.7
p.R1920H
c.5759G>A
1 paper
NM_018036.7
p.R1916Q
c.5747G>A
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