Varaico: Literature-Extracted Genetic Variants

Gene:LRAT
Variant:p.G66E

LRAT

141 papers

RefSeq Summary

The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in ...

Pfam Domains

LRATaa 43–174UCSCLecithin retinol acyltransferase

Gene Aliases

HGNC Name

lecithin retinol acyltransferase

HGNC Alias Symbol

LCA14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004744.5
p.G66E
c.197G>A
Surrounding Variants
1 paper
NM_004744.5
p.G66delFs
c.198delA
2 papers
NM_004744.5
p.G66R
c.196G>A
2 papers
NM_004744.5
p.G66R
c.196G>C
1 paper
NM_004744.5
p.D67fs
c.199_200fs
1 paper
NM_004744.5
p.I63V
c.187A>G
2 papers
NM_004744.5
p.Y61N
c.181T>A
3 papers
NM_004744.5
p.Y61D
c.181T>G
1 paper
NM_004744.5
p.H72Q
c.216C>A
1 paper
NM_004744.5
p.H72Q
c.216C>G
7 papers
NM_004744.5
p.M73delFs
c.217_218delAT
2 papers
NM_004744.5
p.M73fs
c.217_218fs
1 paper
NM_004744.5
p.M73fs
c.217_218fs
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