Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.P581delFs

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
4 papers
NM_003369.4
p.P581delFs
c.1742delC
Surrounding Variants
1 paper
NM_003369.4
p.S582S
c.1746C>T
1 paper
NM_003369.4
p.E584_G586del3
c.1750_1757del9
1 paper
NM_003369.4
p.H576insFs
c.1726dupC
1 paper
NM_003369.4
p.L589R
c.1766T>G
1 paper
NM_003369.4
p.S590F
c.1769C>T
1 paper
NM_003369.4
p.N597Y
c.1789A>T
1 paper
NM_003369.4
p.K562R
c.1685A>G
1 paper
NM_003369.4
p.G598V
c.1793G>T
1 paper
NM_003369.4
p.N561K
c.1683C>A
1 paper
NM_003369.4
p.N561K
c.1683C>G
1 paper
NM_003369.4
p.F557L
c.1671C>A
1 paper
NM_003369.4
p.F557L
c.1671C>G
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