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

2 papers

NM_004817.4

p.G73R

c.217G>A

Surrounding Variants

2 papers

NM_004817.4

p.G73R

c.217G>C

1 paper

NM_004817.4

p.G73A

c.218G>C

1 paper

NM_001170416.2

p.P105_L109delFs

c.313_326del14

2 papers

NM_004817.4

p.D76N

c.226G>A

1 paper

NM_004817.4

p.L70delFs

c.208delC

1 paper

NM_004817.4

p.V69G

c.206T>G

2 papers

NM_004817.4

p.V69M

c.205G>A

1 paper

NM_004817.4

p.G77V

c.230G>T

2 papers

NM_004817.4

p.L79delFs

c.235delC

2 papers

NM_004817.4

p.L79R

c.236T>G

1 paper

NM_004817.4

p.Q80E

c.238C>G

1 paper

NM_004817.4

p.I64V

c.190A>G