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

1–12 of 426 variants

14 papers

NM_004817.4

p.V48A

c.143T>C

7 papers

NM_004817.4

p.A112T

c.334G>A

5 papers

NM_004817.4

p.A273delFs

c.817delG

5 papers

NM_004817.4

p.D482E

c.1446C>A

5 papers

NM_004817.4

p.G694E

c.2081G>A

4 papers

NM_004817.4

p.T62M

c.185C>T

4 papers

NM_004817.4

p.Y261delFs

c.782delA

4 papers

NM_004817.4

p.R367*

c.1099C>T

4 papers

NM_004817.4

p.D482G

c.1445A>G

4 papers

NM_004817.4

p.D482E

c.1446C>G

4 papers

NM_004817.4

p.R632*

c.1894C>T

4 papers

NM_004817.4

p.F813insFs

c.2438dupT