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.N127D

c.379A>G

Surrounding Variants

1 paper

NM_018920.4

p.D128G

c.383A>G

1 paper

NM_018920.4

p.E144K

c.430G>A

1 paper

NM_018920.4

p.E144*

c.430G>T

1 paper

NM_018920.4

p.N145K

c.435T>A

1 paper

NM_018920.4

p.N145K

c.435T>G

1 paper

NM_018920.4

p.G149V

c.446G>T

1 paper

NM_018920.4

p.R101W

c.301C>T

1 paper

NM_018920.4

p.Q98*

c.292C>T

1 paper

NM_018920.4

p.A97T

c.289G>A

1 paper

NM_018920.4

p.R89S

c.267G>C

1 paper

NM_018920.4

p.R89S

c.267G>T

1 paper

NM_018920.4

p.G88delFs

c.263delG