Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.N57K

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.N57K
c.171T>A
Surrounding Variants
1 paper
NM_018036.7
p.N57K
c.171T>G
1 paper
NM_018036.7
p.I59I
c.177C>A
1 paper
NM_018036.7
p.S62delFs
c.186delT
1 paper
NM_018036.7
p.V69I
c.205G>A
1 paper
NM_018036.7
p.E68_G72delFs
c.204_214del11
1 paper
NM_018036.7
p.S76_I77delFs
c.228_229delTT
1 paper
NM_018036.7
p.V81_P82insA
c.241_245ins3
1 paper
NM_018036.7
p.W83*
c.248G>A
1 paper
NM_018036.7
p.W83*
c.249G>A
1 paper
NM_018036.7
p.G84C
c.250G>T
1 paper
NM_018036.7
p.L98S
c.293T>C
1 paper
NM_018036.7
p.M100T
c.299T>C
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