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

1–12 of 96 variants

3 papers

NM_032420.5

p.A514T

c.1540G>A

2 papers

NM_032420.5

p.E560K

c.1678G>A

2 papers

NM_032420.5

p.V1004M

c.3010G>A

2 papers

NM_032420.5

p.K1203R

c.3608A>G

1 paper

NM_032420.5

p.S3Fs

c.7delinsTGGTCFs

1 paper

NM_032420.5

p.G6G

c.18C>G

1 paper

NM_032420.5

p.G6delFs

c.18delG

1 paper

NM_032420.5

p.A14Splc

c.40+3725G>T

1 paper

NM_032420.5

p.L15F

c.43C>T

1 paper

NM_032420.5

p.P20L

c.59C>T

1 paper

NM_032420.5

p.V60A

c.179T>C

1 paper

NM_032420.5

p.G75R

c.223G>C