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.R263L

c.788G>T

Surrounding Variants

1 paper

NM_004817.4

p.E262*

c.784G>T

1 paper

NM_004817.4

p.Y261S

c.782A>C

4 papers

NM_004817.4

p.Y261delFs

c.782delA

2 papers

NM_004817.4

p.Y261fs

c.781_782fs

2 papers

NM_004817.4

p.P267L

c.800C>T

1 paper

NM_004817.4

p.A256delFs

c.767_768delCC

1 paper

NM_004817.4

p.R271C

c.811C>T

2 papers

NM_004817.4

p.A256_Y257delFs

c.766_769del4

5 papers

NM_004817.4

p.A273delFs

c.817delG

3 papers

NM_004817.4

p.A273fs

c.817_818fs

2 papers

NM_004817.4

p.A273fs

c.817_818fs

1 paper

NM_004817.4

p.R274H

c.821G>A