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.A679T

c.2035G>A

Surrounding Variants

1 paper

NM_001330239.4

p.S685I

c.2054G>T

1 paper

NM_001330239.4

p.Q700P

c.2099A>C

1 paper

NM_001330239.4

p.D714A

c.2141A>C

1 paper

NM_001330239.4

p.S747F

c.2240C>T

1 paper

NM_001330239.4

p.K753E

c.2257A>G

1 paper

NM_001330239.4

p.R757*

c.2269C>T

1 paper

NM_001330239.4

p.K760E

c.2278A>G

1 paper

NM_001330239.4

p.K763E

c.2287A>G

3 papers

NM_001330239.4

p.I790V

c.2368A>G

6 papers

NM_001330239.4

p.Y669C

c.2006A>G

1 paper

NM_001330239.4

p.V656I

c.1966G>A

1 paper

NM_001330239.4

p.F650_D655delFs

c.1949_1965del17