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

14 papers

NM_004817.4

p.V48A

c.143T>C

Surrounding Variants

1 paper

NM_004817.4

p.V48E

c.143T>A

1 paper

NM_004817.4

p.V48M

c.142G>A

1 paper

NM_004817.4

p.V48L

c.142G>C

1 paper

NM_004817.4

p.V48L

c.142G>T

1 paper

NM_004817.4

p.A47T

c.139G>A

1 paper

NM_004817.4

p.G50R

c.148G>A

1 paper

NM_004817.4

p.G50R

c.148G>C

1 paper

NM_004817.4

p.P55A

c.163C>G

1 paper

NM_004817.4

p.K41I

c.122A>T

1 paper

NM_004817.4

p.D39N

c.115G>A

1 paper

NM_004817.4

p.D39fs

c.115_116fs

1 paper

NM_004817.4

p.K38_D39Splc

c.115-1G>A