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.N833S

c.2498A>G

Surrounding Variants

2 papers

NM_004817.4

p.T831_S832insAG

c.2491_2495ins6

1 paper

NM_004817.4

p.R825*

c.2473A>T

2 papers

NM_004817.4

p.Q842*

c.2524C>T

1 paper

NM_004817.4

p.R825delFs

c.2473delA

1 paper

NM_004817.4

p.A851_F854del4

c.2551_2561del12

1 paper

NM_004817.4

p.A851T

c.2551G>A

1 paper

NM_004817.4

p.H852delFs

c.2556delC

2 papers

NM_004817.4

p.N814fs

c.2440_2441fs

4 papers

NM_004817.4

p.F813insFs

c.2438dupT

1 paper

NM_004817.4

p.V810M

c.2428G>A

1 paper

NM_004817.4

p.W806*

c.2418G>A

1 paper

NM_004817.4

p.F807delFs

c.2420delT