Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.K238I

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
2 papers
NM_018036.7
p.K238I
c.713A>T
Surrounding Variants
1 paper
NM_018036.7
p.A235T
c.703G>A
1 paper
NM_018036.7
p.L228_F229del2
c.682_686del6
1 paper
NM_018036.7
p.L223L
c.669C>T
1 paper
NM_018036.7
p.L221delFs
c.662_663delAA
1 paper
NM_018036.7
p.L220delFs
c.660delT
1 paper
NM_018036.7
p.H218delFs
c.654delG
1 paper
NM_018036.7
p.P213S
c.637C>T
1 paper
NM_018036.7
p.V210delFs
c.629delA
1 paper
NM_018036.7
p.S206T
c.616T>A
1 paper
NM_018036.7
p.D199_E200delFs
c.597_598delCA
1 paper
NM_018036.7
p.V196delFs
c.587_588delCA
1 paper
NM_018036.7
p.E251_P252del1
c.752_754delGCT
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