Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.L62R

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.L62R
c.185T>G
Surrounding Variants
1 paper
NM_003369.4
p.D63H
c.187G>C
1 paper
NM_003369.4
p.D63A
c.188A>C
2 papers
NM_003369.4
p.T64N
c.191C>A
1 paper
NM_003369.4
p.Y65H
c.193T>C
2 papers
NM_003369.4
p.Y65S
c.194A>C
1 paper
NM_003369.4
p.G58D
c.173G>A
1 paper
NM_003369.4
p.G58R
c.172G>C
1 paper
NM_003369.4
p.N57_Q60del4
c.169_179del12
1 paper
NM_003369.4
p.L68insFs
c.202_203insT
1 paper
NM_003369.4
p.L70insFs
c.209_210insG
1 paper
NM_003369.4
p.C71S
c.211T>A
1 paper
NM_003369.4
p.S72T
c.215G>C
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