Varaico: Literature-Extracted Genetic Variants

Gene:ATG2B
Variant:p.P970S

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.P970S
c.2908C>T
Surrounding Variants
1 paper
NM_018036.7
p.P970_T971del2
c.2908_2912del6
1 paper
NM_018036.7
p.E980K
c.2938G>A
1 paper
NM_018036.7
p.V990A
c.2969T>C
1 paper
NM_018036.7
p.Q993P
c.2978A>C
1 paper
NM_018036.7
p.F1006I
c.3016T>A
1 paper
NM_018036.7
p.F1006delFs
c.3017_3018delAA
2 papers
NM_018036.7
p.K1007_S1008del2
c.3019_3023del6
1 paper
NM_018036.7
p.E1020_L1023del4
c.3058_3068del12
1 paper
NM_018036.7
p.K1040fs
c.3118_3119fs
1 paper
NM_018036.7
p.K1040delFs
c.3120delT
1 paper
NM_018036.7
p.K1040delFs
c.3119_3120delTT
1 paper
NM_018036.7
p.L1041*
c.3122T>G
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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."