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.V111delFs

c.332delT

Surrounding Variants

7 papers

NM_004817.4

p.A112T

c.334G>A

1 paper

NM_004817.4

p.A113P

c.337G>C

1 paper

NM_004817.4

p.S108N

c.323G>A

1 paper

NM_004817.4

p.S108C

c.322A>T

1 paper

NM_004817.4

p.K107*

c.319A>T

1 paper

NM_004817.4

p.I114_V115Splc

c.342+2T>C

1 paper

NM_004817.4

p.Q103R

c.308A>G

1 paper

NM_004817.4

p.V102F

c.304G>T

1 paper

NM_004817.4

p.V102_S108insFs

c.304_323dup20

1 paper

NM_004817.4

p.A101T

c.301G>A

3 papers

NM_004817.4

p.S99S

c.297G>T

1 paper

NM_004817.4

p.F100delFs

c.299_300delTT