Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.V663G

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.V663G
c.1988T>G
Surrounding Variants
1 paper
NM_003369.4
p.D658G
c.1973A>G
1 paper
NM_003369.4
p.T641I
c.1922C>T
11 papers
NM_003369.4
p.E639*
c.1915G>T
1 paper
NM_003369.4
p.L638L
c.1912C>T
1 paper
NM_003369.4
p.S689N
c.2066G>A
1 paper
NM_003369.4
p.I635_I636delFs
c.1903_1907del5
1 paper
NM_003369.4
p.P693L
c.2078C>T
1 paper
NM_003369.4
p.R695W
c.2083A>T
1 paper
NM_003369.4
p.R695S
c.2085G>C
1 paper
NM_003369.4
p.R695S
c.2085G>T
2 papers
NM_003369.4
p.S697S
c.2091C>T
1 paper
NM_003369.4
p.E624K
c.1870G>A
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