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.F83L

c.247T>C

Surrounding Variants

1 paper

NM_032420.5

p.F83S

c.248T>C

1 paper

NM_032420.5

p.F83L

c.249T>G

1 paper

NM_032420.5

p.F83L

c.249T>A

1 paper

NM_032420.5

p.G82A

c.245G>C

1 paper

NM_032420.5

p.G82R

c.244G>C

1 paper

NM_032420.5

p.P84A

c.250C>G

1 paper

NM_032420.5

p.D85A

c.254A>C

1 paper

NM_032420.5

p.D80A

c.239A>C

1 paper

NM_032420.5

p.V86A

c.257T>C

1 paper

NM_032420.5

p.A79S

c.235G>T

1 paper

NM_032420.5

p.S76G

c.226A>G

1 paper

NM_032420.5

p.G75R

c.223G>C