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.G1212D

c.3635G>A

Surrounding Variants

1 paper

NM_001330239.4

p.Y1199D

c.3595T>G

1 paper

NM_001330239.4

p.I1227V

c.3679A>G

1 paper

NM_001330239.4

p.I1227T

c.3680T>C

1 paper

NM_001330239.4

p.R1197C

c.3589C>T

1 paper

NM_001330239.4

p.Y1191F

c.3572A>T

1 paper

NM_001330239.4

p.K1184fs

c.3550_3551fs

1 paper

NM_001330239.4

p.K1184insFs

c.3551dupA

1 paper

NM_001330239.4

p.N1240fs

c.3718_3719fs

1 paper

NM_001330239.4

p.N1240delFs

c.3718_3719delTT

1 paper

NM_001330239.4

p.P1245L

c.3734C>T

1 paper

NM_001330239.4

p.Q1250*

c.3748C>T

1 paper

NM_001330239.4

p.Q1250L

c.3749A>T