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_001278613.2

p.I772delFs

c.2314delT

Surrounding Variants

1 paper

NM_032420.5

p.D745V

c.2234A>T

1 paper

NM_032420.5

p.R782W

c.2344C>T

1 paper

NM_032420.5

p.H809Y

c.2425C>T

1 paper

NM_032420.5

p.R819C

c.2455C>T

1 paper

NM_032420.5

p.T682I

c.2045C>T

1 paper

NM_032420.5

p.D837G

c.2510A>G

1 paper

NM_032420.5

p.Q661L

c.1982A>T

1 paper

NM_032420.5

p.A865S

c.2593G>T

1 paper

NM_032420.5

p.M622L

c.1864A>T

1 paper

NM_032420.5

p.M622L

c.1864A>C

1 paper

NM_032420.5

p.K611R

c.1832A>G

1 paper

NM_032420.5

p.E576D

c.1728G>T