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

3 papers

NM_001330239.4

p.M1V

c.1A>G

Surrounding Variants

1 paper

NM_001330239.4

p.M1insFs

c.1dupA

1 paper

NM_001330239.4

p.M1R

c.2T>G

1 paper

NM_001330239.4

p.S2insFs

c.5_6insT

1 paper

NM_001330239.4

p.S2_A3insFs

c.6_7insT

1 paper

NM_001330239.4

p.S2insFs

c.6dupC

1 paper

NM_001330239.4

p.A5P

c.13G>C

1 paper

NM_001330239.4

p.A7V

c.20C>T

1 paper

NM_001330239.4

p.K9_S10Splc

c.27+1437A>G