Varaico: Literature-Extracted Genetic Variants

OCLN

155 papers

RefSeq Summary

This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a caus...

Pfam Domains

MARVELaa 57–263UCSCMembrane-associating domain

Occludin_ELLaa 420–519UCSCOccludin homology domain

Gene Aliases

HGNC Name

occludin

HGNC Alias Symbol

PPP1R115

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001205254.2

p.C237S

c.710G>C

Surrounding Variants

2 papers

NM_001205254.2

p.C237*

c.711T>A

1 paper

NM_001205254.2

p.C237S

c.709T>A

3 papers

NM_001205254.2

p.C237_V238delins

c.711_714delinsATCCCCAGTA

1 paper

NM_001205254.2

p.D240G

c.719A>G

1 paper

NM_001205254.2

p.D230E

c.690T>G

1 paper

NM_001205254.2

p.Y220*

c.660T>A

1 paper

NM_001205254.2

p.Y220*

c.660T>G

5 papers

NM_001205254.2

p.F219S

c.656T>C

1 paper

NM_001205254.2

p.C216S

c.647G>C

1 paper

NM_001205254.2

p.C216S

c.646T>A

1 paper

NM_001205254.2

p.Y213*

c.639T>A

1 paper

NM_001205254.2

p.Y213*

c.639T>G