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

Selected Variant

1 paper

NM_018920.4

p.Y606C

c.1817A>G

Surrounding Variants

1 paper

NM_018920.4

p.L604Q

c.1811T>A

1 paper

NM_018920.4

p.F617delFs

c.1849_1850delTT

1 paper

NM_018920.4

p.A618E

c.1853C>A

1 paper

NM_018920.4

p.A593V

c.1778C>T

1 paper

NM_018920.4

p.T623M

c.1868C>T

2 papers

NM_018920.4

p.E625K

c.1873G>A

1 paper

NM_018920.4

p.V626M

c.1876G>A

1 paper

NM_018920.4

p.L632P

c.1895T>C

1 paper

NM_018920.4

p.V643E

c.1928T>A

1 paper

NM_018920.4

p.V643G

c.1928T>G

1 paper

NM_018920.4

p.L563P

c.1688T>C

1 paper

NM_018920.4

p.P559P

c.1677G>A