Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.D118N

UBIAD1

102 papers

RefSeq Summary

This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, O...

Pfam Domains

UbiAaa 61–330UCSCUbiA prenyltransferase family

Gene Aliases

HGNC Name

UbiA prenyltransferase domain containing 1

HGNC Previous Symbol

SCCD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013319.3
p.D118N
c.352G>A
Surrounding Variants
16 papers
NM_013319.3
p.D118G
c.353A>G
18 papers
NM_013319.3
p.R119G
c.355A>G
2 papers
NM_013319.3
p.T120R
c.359C>G
8 papers
NM_013319.3
p.L121V
c.361C>G
17 papers
NM_013319.3
p.L121F
c.361C>T
9 papers
NM_013319.3
p.V122E
c.365T>A
8 papers
NM_013319.3
p.V122G
c.365T>G
1 paper
NM_013319.3
p.D112A
c.335A>C
18 papers
NM_013319.3
p.D112G
c.335A>G
1 paper
NM_013319.3
p.R124*
c.370C>T
11 papers
NM_013319.3
p.D112N
c.334G>A
2 papers
NM_013319.3
p.R124L
c.371G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."