Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.L31L

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.L31L
c.93G>A
Surrounding Variants
1 paper
NM_003369.4
p.A30P
c.88G>C
1 paper
NM_003369.4
p.A30delFs
c.90delC
1 paper
NM_003369.4
p.V33A
c.98T>C
4 papers
NM_003369.4
p.V33G
c.98T>G
1 paper
NM_003369.4
p.E34K
c.100G>A
1 paper
NM_003369.4
p.A27A
c.81C>A
1 paper
NM_003369.4
p.L35L
c.105G>A
1 paper
NM_003369.4
p.L35L
c.105G>C
1 paper
NM_003369.4
p.P36S
c.106C>T
1 paper
NM_003369.4
p.P36insFs
c.108dupG
1 paper
NM_003369.4
p.P36L
c.107C>T
1 paper
NM_003369.4
p.A27delFs
c.80delC
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