Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.N102S

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
43 papers
NM_013319.3
p.N102S
c.305A>G
Surrounding Variants
2 papers
NM_013319.3
p.T103A
c.307A>G
5 papers
NM_013319.3
p.T103I
c.308C>T
1 paper
NM_013319.3
p.Y104S
c.311A>C
2 papers
NM_013319.3
p.L100V
c.298T>G
1 paper
NM_013319.3
p.D106N
c.316G>A
9 papers
NM_013319.3
p.G98S
c.292G>A
1 paper
NM_013319.3
p.F107Y
c.320T>A
11 papers
NM_013319.3
p.A97T
c.289G>A
1 paper
NM_013319.3
p.G110V
c.329G>T
11 papers
NM_013319.3
p.D112N
c.334G>A
1 paper
NM_013319.3
p.D112A
c.335A>C
18 papers
NM_013319.3
p.D112G
c.335A>G
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