Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.V85M

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.V85M
c.253G>A
Surrounding Variants
9 papers
NM_013319.3
p.S75F
c.224C>T
11 papers
NM_013319.3
p.A97T
c.289G>A
9 papers
NM_013319.3
p.G98S
c.292G>A
1 paper
NM_013319.3
p.A70V
c.209C>T
2 papers
NM_013319.3
p.L100V
c.298T>G
1 paper
NM_013319.3
p.S69fs
c.205_206fs
43 papers
NM_013319.3
p.N102S
c.305A>G
1 paper
NM_013319.3
p.L67Q
c.200T>A
1 paper
NM_013319.3
p.G68insFs
c.203dupG
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
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