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.D317A

c.950A>C

Surrounding Variants

1 paper

NM_001330239.4

p.D317E

c.951C>G

1 paper

NM_001330239.4

p.D317E

c.951C>A

1 paper

NM_001330239.4

p.P322S

c.964C>T

2 papers

NM_001330239.4

p.R312W

c.934C>T

1 paper

NM_001330239.4

p.S323C

c.968C>G

1 paper

NM_001330239.4

p.R306_S311delins

c.916_931delinsGGAGCTTGGGCATCAA

1 paper

NM_001330239.4

p.R310C

c.928C>T

1 paper

NM_001330239.4

p.H325Y

c.973C>T

1 paper

NM_001330239.4

p.R309H

c.926G>A

1 paper

NM_001330239.4

p.H325P

c.974A>C

1 paper

NM_001330239.4

p.S326insFs

c.976_977insA

1 paper

NM_001330239.4

p.S326insFs

c.977_978insA