Varaico: Literature-Extracted Genetic Variants

Gene:OCEL1

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
1–12 of 26 variants
4 papers
NM_024578.3
p.A167T
c.499G>A
1 paper
NM_024578.3
p.S16W
c.47C>G
1 paper
NM_024578.3
p.Q19H
c.57G>C
1 paper
NM_024578.3
p.Q19H
c.57G>T
1 paper
NM_024578.3
p.G34*
c.100G>T
1 paper
NM_024578.3
p.A37fs
c.109_110fs
1 paper
NM_024578.3
p.A37V
c.110C>T
1 paper
NM_024578.3
p.T41T
c.123C>A
1 paper
NM_024578.3
p.R42L
c.125G>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.T65I
c.194C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."