Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.S237delFs

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
5 papers
NM_003369.4
p.S237delFs
c.709delA
Surrounding Variants
1 paper
NM_003369.4
p.K234fs
c.700_701fs
3 papers
NM_003369.4
p.K235T
c.704A>C
1 paper
NM_003369.4
p.K236R
c.707A>G
2 papers
NM_003369.4
p.S237fs
c.709_710fs
1 paper
NM_003369.4
p.S237fs
c.709_710fs
1 paper
NM_003369.4
p.K243_I244insA
c.727_731ins3
2 papers
NM_003369.4
p.Q248*
c.742C>T
2 papers
NM_003369.4
p.N249D
c.745A>G
1 paper
NM_003369.4
p.K255N
c.765G>C
1 paper
NM_003369.4
p.E261K
c.781G>A
1 paper
NM_003369.4
p.A263V
c.788C>T
1 paper
NM_003369.4
p.L264I
c.790T>A
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