Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.G186R

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
17 papers
NM_013319.3
p.G186R
c.556G>A
Surrounding Variants
17 papers
NM_013319.3
p.G186R
c.556G>C
8 papers
NM_013319.3
p.L188H
c.563T>A
1 paper
NM_013319.3
p.V183M
c.547G>A
2 papers
NM_013319.3
p.I190T
c.569T>C
13 papers
NM_013319.3
p.K181R
c.542A>G
4 papers
NM_013319.3
p.G177E
c.530G>A
1 paper
NM_013319.3
p.F194F
c.582T>C
1 paper
NM_013319.3
p.A198T
c.592G>A
2 papers
NM_013319.3
p.G208E
c.623G>A
1 paper
NM_013319.3
p.G208G
c.624G>A
1 paper
NM_013319.3
p.I212I
c.636C>T
1 paper
NM_013319.3
p.A227S
c.679G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."