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.S39delFs

c.115delA

Surrounding Variants

1 paper

NM_001330239.4

p.S39C

c.116C>G

1 paper

NM_001330239.4

p.G41R

c.121G>A

1 paper

NM_001330239.4

p.G35G

c.105A>G

1 paper

NM_001330239.4

p.F34S

c.101T>C

1 paper

NM_001330239.4

p.F32L

c.96T>G

1 paper

NM_001330239.4

p.F32L

c.96T>A

1 paper

NM_001330239.4

p.F32L

c.94T>C

2 papers

NM_001330239.4

p.G31A

c.92G>C

1 paper

NM_001330239.4

p.F47delFs

c.140delA

1 paper

NM_001330239.4

p.G50R

c.148G>C

1 paper

NM_001330239.4

p.G50R

c.148G>A

1 paper

NM_001330239.4

p.V55A

c.164T>C