Varaico: Literature-Extracted Genetic Variants

Gene:ATG2A
Variant:p.P1056S

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.P1056S
c.3166C>T
Surrounding Variants
1 paper
NM_015104.3
p.R1051H
c.3152G>A
1 paper
NM_015104.3
p.V1050M
c.3148G>A
1 paper
NM_015104.3
p.G1040_R1041del2
c.3118_3122del6
1 paper
NM_015104.3
p.R1041P
c.3122G>C
2 papers
NM_015104.3
p.G1040G
c.3120C>T
1 paper
NM_015104.3
p.R1036H
c.3107G>A
1 paper
NM_015104.3
p.R1031Q
c.3092G>A
1 paper
NM_015104.3
p.T1020_P1023del4
c.3058_3068del12
2 papers
NM_015104.3
p.P1019L
c.3056C>T
2 papers
NM_015104.3
p.D1007_L1008del2
c.3019_3023del6
1 paper
NM_015104.3
p.E1062G
c.3185A>G
1 paper
NM_015104.3
p.R1068W
c.3202C>T
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