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

2 papers

NM_032420.5

p.K1203R

c.3608A>G

Surrounding Variants

1 paper

NM_032420.5

p.R1186C

c.3556C>T

1 paper

NM_032420.5

p.A1169T

c.3505G>A

1 paper

NM_032420.5

p.Q1138L

c.3413A>T

1 paper

NM_032420.5

p.T1117I

c.3350C>T

1 paper

NM_032420.5

p.P1104P

c.3312C>T

1 paper

NM_032420.5

p.A1083S

c.3247G>T

1 paper

NM_032420.5

p.L1082P

c.3245T>C

1 paper

NM_032420.5

p.G1080C

c.3238G>T

1 paper

NM_032420.5

p.R1078L

c.3233G>T

1 paper

NM_032420.5

p.S1061S

c.3183T>C

2 papers

NM_032420.5

p.V1004M

c.3010G>A

1 paper

NM_032420.5

p.A865S

c.2593G>T