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.D789E

c.2367T>A

Surrounding Variants

1 paper

NM_018915.4

p.D789E

c.2367T>G

1 paper

NM_018915.4

p.D789N

c.2365G>A

1 paper

NM_018915.4

p.A793V

c.2378C>T

3 papers

NM_018915.4

p.F806L

c.2416T>C

3 papers

NM_018915.4

p.F806L

c.2418T>A

3 papers

NM_018915.4

p.F806L

c.2418T>G

1 paper

NM_018915.4

p.L768M

c.2302C>A

1 paper

NM_018915.4

p.R764Q

c.2291G>A

1 paper

NM_018915.4

p.V746I

c.2236G>A

1 paper

NM_018915.4

p.V741A

c.2222T>C

1 paper

NM_018915.4

p.S737S

c.2211C>T

1 paper

NM_018915.4

p.L732F

c.2196G>C