Varaico: Literature-Extracted Genetic Variants

TJP3

60 papers

RefSeq Summary

The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain,...

Pfam Domains

PDZaa 11–90UCSCPDZ domain

PDZaa 195–269UCSCPDZ domain

PDZaa 382–459UCSCPDZ domain

SH3_2aa 479–547UCSCVariant SH3 domain

Guanylate_kinaa 658–763UCSCGuanylate kinase

Gene Aliases

HGNC Name

tight junction protein 3

HGNC Alias Symbol

ZO-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001267560.2

p.E321K

c.961G>A

Surrounding Variants

1 paper

NM_001267560.2

p.P305L

c.914C>T

1 paper

NM_001267560.2

p.P290A

c.868C>G

1 paper

NM_001267560.2

p.D285Y

c.853G>T

1 paper

NM_001267560.2

p.S284C

c.850A>T

1 paper

NM_001267560.2

p.R375H

c.1124G>A

1 paper

NM_001267560.2

p.I392F

c.1174A>T

1 paper

NM_001267560.2

p.G393E

c.1178G>A

1 paper

NM_001267560.2

p.V402M

c.1204G>A

1 paper

NM_001267560.2

p.A411T

c.1231G>A

1 paper

NM_001267560.2

p.E422Q

c.1264G>C

1 paper

NM_001267560.2

p.D221A

c.662A>C

1 paper

NM_001267560.2

p.K217N

c.651G>C