Varaico: Literature-Extracted Genetic Variants

ATG16L1

446 papers

RefSeq Summary

The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defe...

Pfam Domains

ATG16aa 16–206UCSCAutophagy protein 16 (ATG16)

WD40aa 312–350UCSCWD domain, G-beta repeat

WD40aa 356–394UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

autophagy related 16 like 1

HGNC Previous Symbol

APG16L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_030803.7

p.L106*

c.317T>A

Surrounding Variants

8 papers

NM_030803.7

p.L106I

c.316T>A

1 paper

NM_030803.7

p.Q108delFs

c.322delC

1 paper

NM_030803.7

p.Q108*

c.322C>T

1 paper

NM_030803.7

p.I111V

c.331A>G

1 paper

NM_030803.7

p.Q118E

c.352C>G

1 paper

NM_030803.7

p.R119W

c.355C>T

1 paper

NM_030803.7

p.R119L

c.356G>T

1 paper

NM_030803.7

p.K120insFs

c.359dupA

1 paper

NM_030803.7

p.K120R

c.359A>G

1 paper

NM_030803.7

p.D121A

c.362A>C

1 paper

NM_030803.7

p.D121V

c.362A>T

1 paper

NM_030803.7

p.M124I

c.372G>T