Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.P14_P15del2

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.P14_P15del2
c.40_44del6
Surrounding Variants
1 paper
NM_003369.4
p.P12S
c.34C>T
1 paper
NM_003369.4
p.P15P
c.45C>A
2 papers
NM_003369.4
p.P16S
c.46C>T
1 paper
NM_003369.4
p.V11I
c.31G>A
2 papers
NM_003369.4
p.P10P
c.30C>G
3 papers
NM_003369.4
p.P10H
c.29C>A
1 paper
NM_003369.4
p.P10L
c.29C>T
1 paper
NM_003369.4
p.G17insFs
c.50_51insT
1 paper
NM_003369.4
p.G9G
c.27C>T
1 paper
NM_003369.4
p.G9S
c.25G>A
1 paper
NM_003369.4
p.A19V
c.56C>T
1 paper
NM_003369.4
p.A19_A20delFs
c.57_60del4
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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."