Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.C1353S

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.C1353S
c.4057T>A
Surrounding Variants
1 paper
NM_018036.7
p.C1353S
c.4058G>C
1 paper
NM_018036.7
p.R1347G
c.4039A>G
1 paper
NM_018036.7
p.Y1362N
c.4084T>A
1 paper
NM_018036.7
p.D1376Y
c.4126G>T
5 papers
NM_018036.7
p.Q1383E
c.4147C>G
1 paper
NM_018036.7
p.D1274G
c.3821A>G
1 paper
NM_018036.7
p.V1271I
c.3811G>A
1 paper
NM_018036.7
p.E1263Q
c.3787G>C
1 paper
NM_018036.7
p.R1257*
c.3769C>T
1 paper
NM_018036.7
p.R1250K
c.3749G>A
1 paper
NM_018036.7
p.R1250K
c.3749G>A
1 paper
NM_018036.7
p.S1244insFs
c.3730_3731ins5
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."