Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.G208G

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.G208G
c.624G>A
Surrounding Variants
2 papers
NM_013319.3
p.G208E
c.623G>A
1 paper
NM_013319.3
p.I212I
c.636C>T
1 paper
NM_013319.3
p.A198T
c.592G>A
1 paper
NM_013319.3
p.F194F
c.582T>C
1 paper
NM_013319.3
p.A227S
c.679G>T
2 papers
NM_013319.3
p.I190T
c.569T>C
8 papers
NM_013319.3
p.L188H
c.563T>A
2 papers
NM_013319.3
p.H230R
c.689A>G
17 papers
NM_013319.3
p.G186R
c.556G>A
17 papers
NM_013319.3
p.G186R
c.556G>C
1 paper
NM_013319.3
p.N232insFs
c.694_695ins4
1 paper
NM_013319.3
p.N232fs
c.694_695fs
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