Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.S522R

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
3 papers
NM_003369.4
p.S522R
c.1566T>G
Surrounding Variants
2 papers
NM_003369.4
p.N524_S525insFs
c.1572_1573insA
1 paper
NM_003369.4
p.T518A
c.1552A>G
1 paper
NM_003369.4
p.L514P
c.1541T>C
3 papers
NM_003369.4
p.L514V
c.1540C>G
24 papers
NM_003369.4
p.L514F
c.1540C>T
13 papers
NM_003369.4
p.T533P
c.1597A>C
1 paper
NM_003369.4
p.S509P
c.1525T>C
1 paper
NM_003369.4
p.M537delFs
c.1609delA
1 paper
NM_003369.4
p.S508N
c.1523G>A
3 papers
NM_003369.4
p.M537T
c.1610T>C
1 paper
NM_003369.4
p.R506Q
c.1517G>A
1 paper
NM_003369.4
p.S498A
c.1492T>G
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