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.D93G

c.278A>G

Surrounding Variants

1 paper

NM_001350562.2

p.D75N

c.223G>A

1 paper

NM_001350562.2

p.A57T

c.169G>A

1 paper

NM_001350562.2

p.R55H

c.164G>A

1 paper

NM_001350562.2

p.R53H

c.158G>A

1 paper

NM_001350562.2

p.E134K

c.400G>A

1 paper

NM_001350562.2

p.R167W

c.499C>T

1 paper

NM_001350562.2

p.Q177*

c.529C>T

1 paper

NM_001350562.2

p.H189R

c.566A>G

1 paper

NM_001350562.2

p.G224W

c.670G>T

1 paper

NM_001350562.2

p.G253R

c.757G>A

1 paper

NM_001350562.2

p.G253R

c.757G>C

1 paper

NM_001350562.2

p.V262L

c.784G>C