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

1–12 of 117 variants

4 papers

NM_018915.4

p.L172F

c.514C>T

3 papers

NM_018915.4

p.E463K

c.1387G>A

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

2 papers

NM_018915.4

p.A331V

c.992C>T

2 papers

NM_018915.4

p.L660V

c.1978C>G

2 papers

NM_018915.4

p.I683K

c.2048T>A

1 paper

NM_018915.4

p.L16P

c.47T>C

1 paper

NM_018915.4

p.A21V

c.62C>T

1 paper

NM_018915.4

p.R27T

c.80G>C

1 paper

NM_018915.4

p.R32C

c.94C>T