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.V370G

c.1109T>G

Surrounding Variants

1 paper

NM_001330239.4

p.E369G

c.1106A>G

1 paper

NM_001330239.4

p.K365E

c.1093A>G

1 paper

NM_001330239.4

p.P364L

c.1091C>T

1 paper

NM_001330239.4

p.P380L

c.1139C>T

3 papers

NM_001330239.4

p.D360V

c.1079A>T

1 paper

NM_001330239.4

p.P383L

c.1148C>T

1 paper

NM_001330239.4

p.R341G

c.1021A>G

1 paper

NM_001330239.4

p.V392L

c.1174G>C

1 paper

NM_001330239.4

p.V392I

c.1174G>A

1 paper

NM_001330239.4

p.D405A

c.1214A>C

1 paper

NM_001330239.4

p.D405E

c.1215T>G

1 paper

NM_001330239.4

p.D405E

c.1215T>A