Varaico: Literature-Extracted Genetic Variants

Gene:ATG9B
Variant:p.E765_A766insFs

ATG9B

64 papers

RefSeq Summary

This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric...

Pfam Domains

ATG9aa 184–676UCSCAutophagy protein ATG9

Gene Aliases

HGNC Name

autophagy related 9B

HGNC Previous Symbol

NOS3AS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001317056.2
p.E765_A766insFs
c.2295_2296insG
Surrounding Variants
2 papers
NM_001317056.2
p.E765fs
c.2293_2294fs
1 paper
NM_001317056.2
p.E765G
c.2294A>G
1 paper
NM_001317056.2
p.E765insFs
c.2294_2295insG
1 paper
NM_001317056.2
p.F711L
c.2133C>G
1 paper
NM_001317056.2
p.F711L
c.2133C>A
1 paper
NM_001317056.2
p.F711L
c.2131T>C
1 paper
NM_001317056.2
p.L708F
c.2124G>T
1 paper
NM_001317056.2
p.L708F
c.2124G>C
1 paper
NM_001317056.2
p.G702S
c.2104G>A
2 papers
NM_001317056.2
p.Q847del1
c.2539_2540delCTG
1 paper
NM_001317056.2
p.Q684_W685Splc
c.2052+146C>T
1 paper
NM_001317056.2
p.D924Y
c.2770G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."