Varaico: Literature-Extracted Genetic Variants

PCDH1

75 papers

RefSeq Summary

This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, sugge...

Pfam Domains

Cadherin_2aa 59–142UCSCCadherin-like

Cadherinaa 173–271UCSCCadherin domain

Cadherinaa 285–378UCSCCadherin domain

Cadherinaa 401–497UCSCCadherin domain

Cadherinaa 511–603UCSCCadherin domain

Cadherinaa 617–706UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 1

HGNC Alias Symbol

pc42

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032420.5

p.E475V

c.1424A>T

Surrounding Variants

1 paper

NM_032420.5

p.E475*

c.1423G>T

1 paper

NM_032420.5

p.K455E

c.1363A>G

3 papers

NM_032420.5

p.A514T

c.1540G>A

1 paper

NM_032420.5

p.C432S

c.1295G>C

1 paper

NM_032420.5

p.C432S

c.1294T>A

1 paper

NM_032420.5

p.D423N

c.1267G>A

1 paper

NM_032420.5

p.P559P

c.1677C>T

2 papers

NM_032420.5

p.E560K

c.1678G>A

1 paper

NM_032420.5

p.T561S

c.1682C>G

1 paper

NM_032420.5

p.M380T

c.1139T>C

1 paper

NM_032420.5

p.E576K

c.1726G>A

1 paper

NM_032420.5

p.E576D

c.1728G>T