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.E318D

c.954G>T

Surrounding Variants

1 paper

NM_004817.4

p.E318D

c.954G>C

1 paper

NM_004817.4

p.E317delFs

c.951delA

1 paper

NM_004817.4

p.L309ins15

c.925_926ins45

2 papers

NM_004817.4

p.L309F

c.925C>T

1 paper

NM_004817.4

p.V308I

c.922G>A

1 paper

NM_004817.4

p.P303L

c.908C>T

1 paper

NM_004817.4

p.P299L

c.896C>T

1 paper

NM_004817.4

p.P299_R300del2

c.895_899del6

1 paper

NM_004817.4

p.E298*

c.892G>T

1 paper

NM_004817.4

p.P297fs

c.889_890fs

1 paper

NM_004817.4

p.S294N

c.881G>A

2 papers

NM_004817.4

p.P295delFs

c.885delC