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.R265W

c.793C>T

Surrounding Variants

1 paper

NM_001330239.4

p.D263E

c.789T>G

1 paper

NM_001330239.4

p.D263E

c.789T>A

1 paper

NM_001330239.4

p.L274L

c.822T>C

1 paper

NM_001330239.4

p.D276A

c.827A>C

1 paper

NM_001330239.4

p.S277S

c.831C>T

1 paper

NM_001330239.4

p.I249insFs

c.745dupA

1 paper

NM_001330239.4

p.L248M

c.742T>A

1 paper

NM_001330239.4

p.L242V

c.724T>G

1 paper

NM_001330239.4

p.T237_E238delins

c.711_714delinsATCCCCAGTA

1 paper

NM_001330239.4

p.T235N

c.704C>A

1 paper

NM_001330239.4

p.I232fs

c.694_695fs

1 paper

NM_001330239.4

p.R306M

c.917G>T