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.R725*

c.2173C>T

Surrounding Variants

2 papers

NM_004817.4

p.R725Q

c.2174G>A

1 paper

NM_004817.4

p.V722I

c.2164G>A

1 paper

NM_004817.4

p.E720D

c.2160G>C

1 paper

NM_004817.4

p.E720D

c.2160G>T

1 paper

NM_004817.4

p.S711P

c.2131T>C

1 paper

NM_004817.4

p.D705N

c.2113G>A

3 papers

NM_004817.4

p.L699L

c.2097G>A

5 papers

NM_004817.4

p.G694E

c.2081G>A

1 paper

NM_004817.4

p.V695_K696del2

c.2083_2087del6

2 papers

NM_004817.4

p.R689C

c.2065C>T

1 paper

NM_004817.4

p.D684Y

c.2050G>T

2 papers

NM_004817.4

p.R682W

c.2044C>T