Varaico: Literature-Extracted Genetic Variants

PATJ

190 papers

RefSeq Summary

This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membra...

Pfam Domains

L27_2aa 8–65UCSCL27_2

PDZaa 134–218UCSCPDZ domain

PDZaa 248–325UCSCPDZ domain

PDZaa 365–450UCSCPDZ domain

PDZaa 564–634UCSCPDZ domain

PDZaa 686–770UCSCPDZ domain

Gene Aliases

HGNC Name

PATJ crumbs cell polarity complex component

HGNC Previous Symbol

INADL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001350145.3

p.V1549L

c.4645G>C

Surrounding Variants

1 paper

NM_001350145.3

p.V1549_G1550ins5

c.4645_4649ins15

1 paper

NM_001350145.3

p.I1548I

c.4644C>T

3 papers

NM_001350145.3

p.R1552*

c.4654C>T

3 papers

NM_001350145.3

p.R1552Q

c.4655G>A

5 papers

NM_001350145.3

p.G1543V

c.4628G>T

1 paper

NM_001350145.3

p.K1538M

c.4613A>T

2 papers

NM_001350145.3

p.E1526del1

c.4576_4577delGAG

1 paper

NM_001350145.3

p.E1520E

c.4560G>A

2 papers

NM_001350145.3

p.V1516L

c.4546G>C

2 papers

NM_001350145.3

p.V1516L

c.4546G>T

1 paper

NM_001350145.3

p.V1515G

c.4544T>G

1 paper

NM_001350145.3

p.Q1510E

c.4528C>G