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.G63R

c.187G>C

Surrounding Variants

1 paper

NM_018920.4

p.G63R

c.187G>A

1 paper

NM_018920.4

p.G63A

c.188G>C

1 paper

NM_018920.4

p.R65C

c.193C>T

1 paper

NM_018920.4

p.R57Q

c.170G>A

1 paper

NM_018920.4

p.A76T

c.226G>A

1 paper

NM_018920.4

p.A76V

c.227C>T

1 paper

NM_018920.4

p.R80H

c.239G>A

1 paper

NM_018920.4

p.S81S

c.243C>T

1 paper

NM_018920.4

p.G88delFs

c.263delG

1 paper

NM_018920.4

p.S36L

c.107C>T

1 paper

NM_018920.4

p.R89S

c.267G>C

1 paper

NM_018920.4

p.R89S

c.267G>T