Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.N1124D

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.N1124D
c.3370A>G
Surrounding Variants
1 paper
NM_018036.7
p.I1122V
c.3364A>G
1 paper
NM_018036.7
p.L1128I
c.3382C>A
1 paper
NM_018036.7
p.R1133Q
c.3398G>A
1 paper
NM_018036.7
p.S1136N
c.3407G>A
1 paper
NM_018036.7
p.R1139H
c.3416G>A
1 paper
NM_018036.7
p.T1146S
c.3436A>T
1 paper
NM_018036.7
p.T1146S
c.3437C>G
1 paper
NM_018036.7
p.N1169S
c.3506A>G
1 paper
NM_018036.7
p.V1175I
c.3523G>A
1 paper
NM_018036.7
p.E1188V
c.3563A>T
1 paper
NM_018036.7
p.V1193I
c.3577G>A
1 paper
NM_018036.7
p.A1198fs
c.3592_3593fs
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