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

1–12 of 274 variants

6 papers

NM_001330239.4

p.R265W

c.793C>T

6 papers

NM_001330239.4

p.Y669C

c.2006A>G

4 papers

NM_001330239.4

p.R1117*

c.3349A>T

3 papers

NM_001330239.4

p.M1V

c.1A>G

3 papers

NM_001330239.4

p.S329L

c.986C>T

3 papers

NM_001330239.4

p.D360V

c.1079A>T

3 papers

NM_001330239.4

p.I790V

c.2368A>G

3 papers

NM_001330239.4

p.R1083C

c.3247C>T

2 papers

NM_001330239.4

p.G31A

c.92G>C

2 papers

NM_001330239.4

p.L69V

c.205C>G

2 papers

NM_001330239.4

p.R108K

c.323G>A

2 papers

NM_001330239.4

p.R140delFs

c.419delC