Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.E639*

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
11 papers
NM_003369.4
p.E639*
c.1915G>T
Surrounding Variants
1 paper
NM_003369.4
p.L638L
c.1912C>T
1 paper
NM_003369.4
p.T641I
c.1922C>T
1 paper
NM_003369.4
p.I635_I636delFs
c.1903_1907del5
1 paper
NM_003369.4
p.E624K
c.1870G>A
1 paper
NM_003369.4
p.S621A
c.1861T>G
1 paper
NM_003369.4
p.D658G
c.1973A>G
1 paper
NM_003369.4
p.H618H
c.1854C>T
1 paper
NM_003369.4
p.G615G
c.1845C>T
1 paper
NM_003369.4
p.V663G
c.1988T>G
1 paper
NM_003369.4
p.P614A
c.1840C>G
1 paper
NM_003369.4
p.G598V
c.1793G>T
1 paper
NM_003369.4
p.N597Y
c.1789A>T
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