Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.S72T

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.S72T
c.215G>C
Surrounding Variants
1 paper
NM_003369.4
p.C71S
c.211T>A
1 paper
NM_003369.4
p.L70insFs
c.209_210insG
1 paper
NM_003369.4
p.K75_I76delFs
c.223_227del5
1 paper
NM_003369.4
p.K75N
c.225G>C
1 paper
NM_003369.4
p.K75N
c.225G>T
1 paper
NM_003369.4
p.L68insFs
c.202_203insT
1 paper
NM_003369.4
p.Y77*
c.231T>A
2 papers
NM_003369.4
p.Y65S
c.194A>C
1 paper
NM_003369.4
p.E79A
c.236A>C
1 paper
NM_003369.4
p.E79Splc
c.235+1G>A
1 paper
NM_003369.4
p.Y65H
c.193T>C
2 papers
NM_003369.4
p.T64N
c.191C>A
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