Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.T1534S

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
4 papers
NM_018036.7
p.T1534S
c.4600A>T
Surrounding Variants
1 paper
NM_018036.7
p.T1534M
c.4601C>T
1 paper
NM_018036.7
p.L1527L
c.4579C>T
1 paper
NM_018036.7
p.S1526C
c.4576A>T
1 paper
NM_018036.7
p.N1523S
c.4568A>G
1 paper
NM_018036.7
p.I1518T
c.4553T>C
1 paper
NM_018036.7
p.W1557*
c.4671G>A
1 paper
NM_018036.7
p.K1504N
c.4512G>C
1 paper
NM_018036.7
p.I1567T
c.4700T>C
1 paper
NM_018036.7
p.P1569L
c.4706C>T
1 paper
NM_018036.7
p.F1491I
c.4471T>A
1 paper
NM_018036.7
p.G1466S
c.4396G>A
2 papers
NM_018036.7
p.S1465P
c.4393T>C
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