Varaico: Literature-Extracted Genetic Variants

Gene:OCEL1
Variant:p.G78V

OCEL1

25 papers

Pfam Domains

Occludin_ELLaa 153–254UCSCOccludin homology domain

Gene Aliases

HGNC Name

occludin/ELL domain containing 1

HGNC Alias Symbol

FLJ22709

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024578.3
p.G78V
c.233G>T
Surrounding Variants
1 paper
NM_024578.3
p.P79T
c.235C>A
1 paper
NM_024578.3
p.R66C
c.196C>T
1 paper
NM_024578.3
p.T65I
c.194C>T
1 paper
NM_024578.3
p.E61fs
c.181_182fs
1 paper
NM_024578.3
p.E61delFs
c.182delA
1 paper
NM_024578.3
p.R42L
c.125G>T
1 paper
NM_024578.3
p.T41T
c.123C>A
1 paper
NM_024578.3
p.A37V
c.110C>T
1 paper
NM_024578.3
p.A37fs
c.109_110fs
1 paper
NM_024578.3
p.G34*
c.100G>T
1 paper
NM_024578.3
p.P82_L83Splc
c.247-1G>A
1 paper
NM_024578.3
p.A109ins14
c.325_326ins42
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