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.D884E

c.2652C>A

Surrounding Variants

1 paper

NM_001330239.4

p.D884E

c.2652C>G

1 paper

NM_001330239.4

p.S885F

c.2654C>T

1 paper

NM_001330239.4

p.R876Q

c.2627G>A

1 paper

NM_001330239.4

p.T894I

c.2681C>T

1 paper

NM_001330239.4

p.P870L

c.2609C>T

1 paper

NM_001330239.4

p.P900L

c.2699C>T

1 paper

NM_001330239.4

p.L858V

c.2572C>G

1 paper

NM_001330239.4

p.S912fs

c.2734_2735fs

1 paper

NM_001330239.4

p.S912delFs

c.2734_2735delGA

1 paper

NM_001330239.4

p.D855Y

c.2563G>T

1 paper

NM_001330239.4

p.D847N

c.2539G>A

2 papers

NM_001330239.4

p.T840N

c.2519C>A