Varaico: Literature-Extracted Genetic Variants

TJP1

366 papers

RefSeq Summary

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions ...

Pfam Domains

PDZaa 23–107UCSCPDZ domain

PDZaa 186–261UCSCPDZ domain

PDZaa 423–501UCSCPDZ domain

SH3_2aa 520–582UCSCVariant SH3 domain

Guanylate_kinaa 681–793UCSCGuanylate kinase

ZU5aa 1560–1658UCSCZU5 domain

Gene Aliases

HGNC Name

tight junction protein 1

HGNC Alias Symbols

ZO-1; MGC133289; DKFZp686M05161

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001330239.4

p.E135D

c.405A>T

Surrounding Variants

1 paper

NM_001330239.4

p.E134K

c.400G>A

1 paper

NM_001330239.4

p.D138G

c.413A>G

2 papers

NM_001330239.4

p.R140delFs

c.419delC

1 paper

NM_001330239.4

p.G142D

c.425G>A

1 paper

NM_001330239.4

p.R143Q

c.428G>A

1 paper

NM_001330239.4

p.S144_G145del0

c.430_435del6

1 paper

NM_001330239.4

p.V124I

c.370G>A

1 paper

NM_001330239.4

p.R149T

c.446G>C

1 paper

NM_001330239.4

p.R150K

c.449G>A

1 paper

NM_001330239.4

p.R118L

c.353G>T

1 paper

NM_001330239.4

p.V116I

c.346G>A

2 papers

NM_001330239.4

p.P156insFs

c.467_468insT