Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.L42H

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.L42H
c.125T>A
Surrounding Variants
1 paper
NM_003369.4
p.L42V
c.124C>G
1 paper
NM_003369.4
p.L42F
c.124C>T
1 paper
NM_003369.4
p.R41R
c.123T>A
1 paper
NM_003369.4
p.R43Q
c.128G>A
3 papers
NM_003369.4
p.L42del1
c.124_126delCTT
1 paper
NM_003369.4
p.R43R
c.129A>G
1 paper
NM_003369.4
p.R43R
c.129A>T
1 paper
NM_003369.4
p.R40W
c.118C>T
3 papers
NM_003369.4
p.Q39_R40Splc
c.118-2A>G
1 paper
NM_003369.4
p.L45P
c.134T>C
1 paper
NM_003369.4
p.N47K
c.141C>G
1 paper
NM_003369.4
p.A49V
c.146C>T
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