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

2 papers

NM_001205254.2

p.E473A

c.1418A>C

Surrounding Variants

1 paper

NM_001205254.2

p.E472K

c.1414G>A

1 paper

NM_001205254.2

p.E470K

c.1408G>A

2 papers

NM_001205254.2

p.E469A

c.1406A>C

1 paper

NM_001205254.2

p.D465_D466insFs

c.1395_1396ins4

1 paper

NM_001205254.2

p.D465H

c.1393G>C

1 paper

NM_001205254.2

p.E456_S458delFs

c.1368_1372del5

1 paper

NM_001205254.2

p.E449V

c.1346A>T

2 papers

NM_001205254.2

p.E442*

c.1324G>T

1 paper

NM_001205254.2

p.Q441*

c.1321C>T

2 papers

NM_001205254.2

p.Q441fs

c.1321_1322fs

3 papers

NM_001205254.2

p.L440_L446delFs

c.1320_1336del17

1 paper

NM_001205254.2

p.Q430_N435del6

c.1288_1304del18