Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.D312D

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.D312D
c.936T>C
Surrounding Variants
1 paper
NM_018036.7
p.D316N
c.946G>A
1 paper
NM_018036.7
p.I315_I318delFs
c.944_953del10
1 paper
NM_018036.7
p.P324delFs
c.970_971delGG
1 paper
NM_018036.7
p.I337L
c.1009A>C
2 papers
NM_018036.7
p.A336delFs
c.1007_1008delAG
1 paper
NM_018036.7
p.S344delFs
c.1030delT
1 paper
NM_018036.7
p.G347delFs
c.1040_1041delCC
1 paper
NM_018036.7
p.E369delFs
c.1107delT
1 paper
NM_018036.7
p.R372Q
c.1115G>A
1 paper
NM_018036.7
p.S381F
c.1142C>T
1 paper
NM_018036.7
p.E387D
c.1161G>T
1 paper
NM_018036.7
p.E387D
c.1161G>C
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