Varaico: Literature-Extracted Genetic Variants

Gene:ATG2A
Variant:p.R422H

ATG2A

162 papers

Pfam Domains

ATG2_CADaa 12–255UCSCAutophagy-related protein 2
ATG2_CADaa 1045–1439UCSCAutophagy-related protein 2
ATG2_CADaa 1466–1932UCSCAutophagy-related protein 2

Gene Aliases

HGNC Name

autophagy related 2A

HGNC Alias Symbols

KIAA0404; BLTP4A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015104.3
p.R422H
c.1265G>A
Surrounding Variants
1 paper
NM_015104.3
p.R422C
c.1264C>T
1 paper
NM_015104.3
p.P414_D419del6
c.1240_1256del18
1 paper
NM_015104.3
p.L417F
c.1249C>T
1 paper
NM_015104.3
p.M429L
c.1285A>T
1 paper
NM_015104.3
p.M429L
c.1285A>C
1 paper
NM_015104.3
p.A413G
c.1238C>G
2 papers
NM_015104.3
p.G433A
c.1298G>C
1 paper
NM_015104.3
p.L436Q
c.1307T>A
1 paper
NM_015104.3
p.S442_S446del5
c.1324_1337del15
1 paper
NM_015104.3
p.G447_P448del2
c.1339_1343del6
1 paper
NM_015104.3
p.D450A
c.1349A>C
1 paper
NM_015104.3
p.T457I
c.1370C>T
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