Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.G177R

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
20 papers
NM_013319.3
p.G177R
c.529G>C
Surrounding Variants
20 papers
NM_013319.3
p.G177R
c.529G>A
13 papers
NM_013319.3
p.G177E
c.530G>A
2 papers
NM_013319.3
p.G176E
c.527G>A
19 papers
NM_013319.3
p.T175I
c.524C>T
12 papers
NM_013319.3
p.Y174C
c.521A>G
19 papers
NM_013319.3
p.S171P
c.511T>C
2 papers
NM_013319.3
p.L162P
c.485T>C
1 paper
NM_013319.3
p.K156R
c.467A>G
1 paper
NM_013319.3
p.C148R
c.442T>C
1 paper
NM_013319.3
p.Y139*
c.417C>A
2 papers
NM_013319.3
p.Y139Y
c.417C>T
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."