Varaico: Literature-Extracted Genetic Variants

PCDHGA7

79 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 7

HGNC Alias Symbol

PCDH-GAMMA-A7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 99 variants

3 papers

NM_018920.4

p.E188G

c.563A>G

2 papers

NM_018920.4

p.E271G

c.812A>G

2 papers

NM_018920.4

p.E625K

c.1873G>A

1 paper

NM_018920.4

p.A2V

c.5C>T

1 paper

NM_018920.4

p.P5delFs

c.13delC

1 paper

NM_018920.4

p.G21E

c.62G>A

1 paper

NM_018920.4

p.G21G

c.63G>A

1 paper

NM_018920.4

p.P23T

c.67C>A

1 paper

NM_018920.4

p.R30S

c.88C>A

1 paper

NM_018920.4

p.S36L

c.107C>T

1 paper

NM_018920.4

p.R57Q

c.170G>A

1 paper

NM_018920.4

p.G63R

c.187G>A