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.G651E

c.1952G>A

Surrounding Variants

1 paper

NM_004817.4

p.P660delFs

c.1978delC

1 paper

NM_004817.4

p.P660L

c.1979C>T

1 paper

NM_004817.4

p.K641R

c.1922A>G

1 paper

NM_004817.4

p.T636R

c.1907C>G

4 papers

NM_004817.4

p.R632*

c.1894C>T

1 paper

NM_004817.4

p.F631V

c.1891T>G

3 papers

NM_004817.4

p.T626S

c.1877C>G

3 papers

NM_004817.4

p.T626S

c.1876A>T

1 paper

NM_004817.4

p.E616K

c.1846G>A

1 paper

NM_004817.4

p.C615insFs

c.1845dupT

1 paper

NM_004817.4

p.I609insFs

c.1826_1827dupTA

1 paper

NM_004817.4

p.S606L

c.1817C>T