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.F459L

c.1377T>G

Surrounding Variants

1 paper

NM_004817.4

p.S461_T462del2

c.1381_1385del6

1 paper

NM_004817.4

p.S461C

c.1382C>G

1 paper

NM_004817.4

p.S461_T462delFs

c.1383_1386del4

1 paper

NM_004817.4

p.P458delFs

c.1373delC

1 paper

NM_004817.4

p.P456L

c.1367C>T

2 papers

NM_004817.4

p.A454delFs

c.1361delC

1 paper

NM_004817.4

p.G467D

c.1400G>A

1 paper

NM_004817.4

p.S447delFs

c.1339delA

1 paper

NM_004817.4

p.P477H

c.1430C>A

4 papers

NM_004817.4

p.D482G

c.1445A>G

5 papers

NM_004817.4

p.D482E

c.1446C>A

4 papers

NM_004817.4

p.D482E

c.1446C>G