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

1–12 of 58 variants

1 paper

NM_001267560.2

p.W7*

c.20G>A

1 paper

NM_001267560.2

p.W7*

c.21G>A

1 paper

NM_001267560.2

p.S36F

c.107C>T

1 paper

NM_001267560.2

p.D41Y

c.121G>T

1 paper

NM_001267560.2

p.A48A

c.144G>A

1 paper

NM_001267560.2

p.Q53Splc

c.159-1G>A

1 paper

NM_001267560.2

p.M66R

c.197T>G

1 paper

NM_001267560.2

p.I87_T88Splc

c.261+2T>C

1 paper

NM_001267560.2

p.R93W

c.277C>T

1 paper

NM_001267560.2

p.R93Q

c.278G>A

1 paper

NM_001267560.2

p.R162H

c.485G>A

1 paper

NM_001267560.2

p.R163W

c.487A>T