Varaico: Literature-Extracted Genetic Variants

TJAP1

28 papers

RefSeq Summary

This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to ...

Pfam Domains

BEGAIN_coilaa 45–147UCSCBrain-enriched guanylate kinase-associated protein coiled-coil domain

Piltaa 275–473UCSCProtein incorporated later into Tight Junctions

Piltaa 465–556UCSCProtein incorporated later into Tight Junctions

Gene Aliases

HGNC Name

tight junction associated protein 1

HGNC Previous Symbol

TJP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001350562.2

p.H514delFs

c.1540delC

Surrounding Variants

1 paper

NM_001350562.2

p.H514fs

c.1540_1541fs

1 paper

NM_001350562.2

p.T515S

c.1543A>T

1 paper

NM_001350562.2

p.T515S

c.1544C>G

1 paper

NM_001350562.2

p.E516V

c.1547A>T

1 paper

NM_001350562.2

p.R496C

c.1486C>T

1 paper

NM_001350562.2

p.K533insFs

c.1598dupA

1 paper

NM_001350562.2

p.K533R

c.1598A>G

1 paper

NM_001350562.2

p.R542delFs

c.1625delG

1 paper

NM_001350562.2

p.K543R

c.1628A>G

1 paper

NM_001350562.2

p.Q548R

c.1643A>G

1 paper

NM_001350562.2

p.P472P

c.1416C>G

1 paper

NM_001350562.2

p.*558W

c.1673A>G