Varaico: Literature-Extracted Genetic Variants

TJP2

250 papers

RefSeq Summary

This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelia...

Pfam Domains

PDZaa 37–121UCSCPDZ domain

PDZaa 302–386UCSCPDZ domain

PDZaa 515–593UCSCPDZ domain

SH3_2aa 612–671UCSCVariant SH3 domain

Guanylate_kinaa 771–882UCSCGuanylate kinase

Gene Aliases

HGNC Name

tight junction protein 2

HGNC Previous Symbol

DFNA51

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004817.4

p.G198D

c.593G>A

Surrounding Variants

1 paper

NM_004817.4

p.R197delFs

c.590delG

1 paper

NM_004817.4

p.R197fs

c.589_590fs

1 paper

NM_001170415.1

p.S204_L205ins4

c.610_614ins12

2 papers

NM_004817.4

p.D194delFs

c.581delA

1 paper

NM_004817.4

p.R193Q

c.578G>A

1 paper

NM_001170416.2

p.R224W

c.670C>T

1 paper

NM_004817.4

p.R189R

c.567G>T

1 paper

NM_004817.4

p.R187Q

c.560G>A

1 paper

NM_004817.4

p.R217C

c.649C>T

1 paper

NM_004817.4

p.R219Q

c.656G>A

1 paper

NM_004817.4

p.E176_L191del16

c.526_572del48

1 paper

NM_001170415.1

p.S178C

c.532A>T