Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.N232insFs

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.N232insFs
c.694_695ins4
Surrounding Variants
1 paper
NM_013319.3
p.N232fs
c.694_695fs
20 papers
NM_013319.3
p.N232S
c.695A>G
12 papers
NM_013319.3
p.N233H
c.697A>C
2 papers
NM_013319.3
p.H230R
c.689A>G
2 papers
NM_013319.3
p.D236A
c.707A>C
18 papers
NM_013319.3
p.D236E
c.708C>A
18 papers
NM_013319.3
p.D236E
c.708C>G
1 paper
NM_013319.3
p.A227S
c.679G>T
1 paper
NM_013319.3
p.M237K
c.710T>A
1 paper
NM_013319.3
p.E238A
c.713A>C
12 papers
NM_013319.3
p.D240N
c.718G>A
2 papers
NM_013319.3
p.D240A
c.719A>C
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