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

4 papers

NM_004817.4

p.R367*

c.1099C>T

Surrounding Variants

1 paper

NM_004817.4

p.A366T

c.1096G>A

1 paper

NM_004817.4

p.D365E

c.1095T>G

1 paper

NM_004817.4

p.D365N

c.1093G>A

1 paper

NM_004817.4

p.T364M

c.1091C>T

1 paper

NM_004817.4

p.E371G

c.1112A>G

1 paper

NM_004817.4

p.S362T

c.1084T>A

1 paper

NM_004817.4

p.L377V

c.1129C>G

1 paper

NM_004817.4

p.G355E

c.1064G>A

1 paper

NM_004817.4

p.L379V

c.1135C>G

1 paper

NM_004817.4

p.G355R

c.1063G>A

1 paper

NM_004817.4

p.G355R

c.1063G>C

1 paper

NM_004817.4

p.L379Q

c.1136T>A