Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.Q273P

UVRAG

545 papers

RefSeq Summary

This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy...

Pfam Domains

C2aa 42–125UCSCC2 domain
ATG14aa 184–465UCSCVacuolar sorting 38 and autophagy-related subunit 14

Gene Aliases

HGNC Name

UV radiation resistance associated

HGNC Alias Symbol

VPS38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003369.4
p.Q273P
c.818A>C
Surrounding Variants
1 paper
NM_003369.4
p.G276*
c.826G>T
1 paper
NM_003369.4
p.H266D
c.796C>G
1 paper
NM_003369.4
p.H266delFs
c.797delA
1 paper
NM_003369.4
p.L265Q
c.794T>A
2 papers
NM_003369.4
p.L265P
c.794T>C
1 paper
NM_003369.4
p.L265R
c.794T>G
1 paper
NM_003369.4
p.L265M
c.793C>A
1 paper
NM_003369.4
p.L264F
c.792A>C
1 paper
NM_003369.4
p.L264F
c.792A>T
1 paper
NM_003369.4
p.G276Splc
c.826+20A>G
1 paper
NM_003369.4
p.L264I
c.790T>A
1 paper
NM_003369.4
p.L264V
c.790T>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."