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.R169C

c.505C>T

Surrounding Variants

1 paper

NM_004817.4

p.R169R

c.507C>T

1 paper

NM_004817.4

p.S170delFs

c.510delC

1 paper

NM_004817.4

p.R167fs

c.499_500fs

1 paper

NM_004817.4

p.G166delFs

c.498delG

1 paper

NM_004817.4

p.H164R

c.491A>G

1 paper

NM_001170415.1

p.S178C

c.532A>T

1 paper

NM_004817.4

p.E176_L191del16

c.526_572del48

1 paper

NM_001170416.2

p.L192fs

c.574_575fs

1 paper

NM_001170416.2

p.S190_L192insFs

c.570_574dup5

1 paper

NM_004817.4

p.R158S

c.474G>C

1 paper

NM_004817.4

p.R158S

c.474G>T

1 paper

NM_004817.4

p.E157K

c.469G>A