Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.G486V

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.G486V
c.1457G>T
Surrounding Variants
1 paper
NM_003369.4
p.A488_P497del10
c.1462_1490del30
1 paper
NM_003369.4
p.D489A
c.1466A>C
1 paper
NM_003369.4
p.Q481L
c.1442A>T
1 paper
NM_003369.4
p.G494R
c.1480G>A
1 paper
NM_003369.4
p.G494R
c.1480G>C
1 paper
NM_003369.4
p.P478L
c.1433C>T
1 paper
NM_003369.4
p.G494E
c.1481G>A
1 paper
NM_003369.4
p.P476L
c.1427C>T
1 paper
NM_003369.4
p.P476S
c.1426C>T
1 paper
NM_003369.4
p.S498A
c.1492T>G
1 paper
NM_003369.4
p.H470insFs
c.1409dupA
1 paper
NM_003369.4
p.H469H
c.1407T>C
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