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

6 papers

NM_001330239.4

p.Y669C

c.2006A>G

Surrounding Variants

1 paper

NM_001330239.4

p.V656I

c.1966G>A

1 paper

NM_001330239.4

p.F650_D655delFs

c.1949_1965del17

1 paper

NM_001330239.4

p.F650fs

c.1948_1949fs

1 paper

NM_001330239.4

p.R639*

c.1915C>T

1 paper

NM_001330239.4

p.A632S

c.1894G>T

1 paper

NM_001330239.4

p.A632T

c.1894G>A

1 paper

NM_001330239.4

p.L614P

c.1841T>C

1 paper

NM_001330239.4

p.S609I

c.1826G>T

1 paper

NM_001330239.4

p.A594T

c.1780G>A

1 paper

NM_001330239.4

p.T589I

c.1766C>T

1 paper

NM_001330239.4

p.A584V

c.1751C>T

1 paper

NM_001330239.4

p.E581K

c.1741G>A