Varaico: Literature-Extracted Genetic Variants

PCDHGA2

100 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, 2

HGNC Alias Symbol

PCDH-GAMMA-A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018915.4

p.R202S

c.604C>A

Surrounding Variants

1 paper

NM_018915.4

p.R198H

c.593G>A

1 paper

NM_018915.4

p.R198C

c.592C>T

1 paper

NM_018915.4

p.D216Y

c.646G>T

1 paper

NM_018915.4

p.D219V

c.656A>T

1 paper

NM_018915.4

p.R183Q

c.548G>A

1 paper

NM_018915.4

p.G224D

c.671G>A

1 paper

NM_018915.4

p.H177N

c.529C>A

1 paper

NM_018915.4

p.I228M

c.684C>G

1 paper

NM_018915.4

p.N173D

c.517A>G

4 papers

NM_018915.4

p.L172F

c.514C>T

1 paper

NM_018915.4

p.A166G

c.497C>G

1 paper

NM_018915.4

p.E164K

c.490G>A