Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.Q320L

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
1 paper
NM_003369.4
p.Q320L
c.959A>T
Surrounding Variants
1 paper
NM_003369.4
p.Q320_L321insGC
c.958_962ins6
2 papers
NM_003369.4
p.R319K
c.956G>A
2 papers
NM_003369.4
p.C318Y
c.953G>A
1 paper
NM_003369.4
p.E324A
c.971A>C
2 papers
NM_003369.4
p.T315I
c.944C>T
1 paper
NM_003369.4
p.Q313L
c.938A>T
1 paper
NM_003369.4
p.Q313E
c.937C>G
1 paper
NM_003369.4
p.Q313_T315delFs
c.938_945del8
1 paper
NM_003369.4
p.A312T
c.934G>A
1 paper
NM_003369.4
p.A312_Q313del2
c.934_938del6
1 paper
NM_003369.4
p.R304Splc
c.912-12T>C
2 papers
NM_003369.4
p.L333_N334Splc
c.1000-2A>G
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