Varaico: Literature-Extracted Genetic Variants

PCDHGA5

68 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, 5

HGNC Alias Symbols

CDH-GAMMA-A5; PCDH-GAMMA-A5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018918.3

p.A87T

c.259G>A

Surrounding Variants

1 paper

NM_018918.3

p.D91N

c.271G>A

1 paper

NM_018918.3

p.R80Q

c.239G>A

1 paper

NM_018918.3

p.R80P

c.239G>C

1 paper

NM_018918.3

p.E94D

c.282G>C

1 paper

NM_018918.3

p.E94D

c.282G>T

3 papers

NM_018918.3

p.T72M

c.215C>T

1 paper

NM_018918.3

p.T72S

c.214A>T

1 paper

NM_018918.3

p.R65H

c.194G>A

1 paper

NM_018918.3

p.G63R

c.187G>A

1 paper

NM_018918.3

p.G63R

c.187G>C

1 paper

NM_018918.3

p.D51H

c.151G>C

1 paper

NM_018918.3

p.D125N

c.373G>A