Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.S69fs

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.S69fs
c.205_206fs
Surrounding Variants
1 paper
NM_013319.3
p.A70V
c.209C>T
1 paper
NM_013319.3
p.L67Q
c.200T>A
1 paper
NM_013319.3
p.G68insFs
c.203dupG
9 papers
NM_013319.3
p.S75F
c.224C>T
1 paper
NM_013319.3
p.P55_W56del2
c.163_167del6
1 paper
NM_013319.3
p.V85M
c.253G>A
1 paper
NM_013319.3
p.V50V
c.150G>A
1 paper
NM_013319.3
p.A47V
c.140C>T
1 paper
NM_013319.3
p.K45*
c.133A>T
1 paper
NM_013319.3
p.Q44Q
c.132G>A
11 papers
NM_013319.3
p.A97T
c.289G>A
9 papers
NM_013319.3
p.G98S
c.292G>A
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."