Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1

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
1–12 of 90 variants
43 papers
NM_013319.3
p.N102S
c.305A>G
20 papers
NM_013319.3
p.G177R
c.529G>A
20 papers
NM_013319.3
p.G177R
c.529G>C
20 papers
NM_013319.3
p.N232S
c.695A>G
19 papers
NM_013319.3
p.S171P
c.511T>C
19 papers
NM_013319.3
p.T175I
c.524C>T
18 papers
NM_013319.3
p.D112G
c.335A>G
18 papers
NM_013319.3
p.R119G
c.355A>G
18 papers
NM_013319.3
p.D236E
c.708C>A
18 papers
NM_013319.3
p.D236E
c.708C>G
17 papers
NM_013319.3
p.L121F
c.361C>T
17 papers
NM_013319.3
p.G186R
c.556G>A
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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."