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.V515A

c.1544T>C

Surrounding Variants

1 paper

NM_001330239.4

p.V515I

c.1543G>A

1 paper

NM_001330239.4

p.F519Fs

c.1555delinsAAFs

1 paper

NM_001330239.4

p.H524Y

c.1570C>T

1 paper

NM_001330239.4

p.F525S

c.1574T>C

1 paper

NM_001330239.4

p.Y527F

c.1580A>T

1 paper

NM_001330239.4

p.E528K

c.1582G>A

1 paper

NM_001330239.4

p.Y533*

c.1599T>G

1 paper

NM_001330239.4

p.Y533*

c.1599T>A

1 paper

NM_001330239.4

p.S536T

c.1607G>C

1 paper

NM_001330239.4

p.G540E

c.1619G>A

1 paper

NM_001330239.4

p.R544H

c.1631G>A

1 paper

NM_001330239.4

p.Y550fs

c.1648_1649fs