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.P1027_P1031Fs

c.3081_3092delinsCGFs

Surrounding Variants

1 paper

NM_001330239.4

p.G1028V

c.3083G>T

1 paper

NM_001330239.4

p.R1072Q

c.3215G>A

1 paper

NM_001330239.4

p.H1076Y

c.3226C>T

1 paper

NM_001330239.4

p.Y1080F

c.3239A>T

1 paper

NM_001330239.4

p.E1081E

c.3243A>G

3 papers

NM_001330239.4

p.R1083C

c.3247C>T

1 paper

NM_001330239.4

p.S1102A

c.3304T>G

1 paper

NM_001330239.4

p.D1115A

c.3344A>C

4 papers

NM_001330239.4

p.R1117*

c.3349A>T

1 paper

NM_001330239.4

p.R1131H

c.3392G>A

1 paper

NM_001330239.4

p.F1132L

c.3394T>C

1 paper

NM_001330239.4

p.A1152V

c.3455C>T