Varaico: Literature-Extracted Genetic Variants

PCDHGA12

64 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 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 12

HGNC Previous Symbol

CDH21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003735.3

p.M110T

c.329T>C

Surrounding Variants

1 paper

NM_003735.3

p.A130A

c.390G>A

2 papers

NM_003735.3

p.F75L

c.225C>A

2 papers

NM_003735.3

p.F75L

c.225C>G

2 papers

NM_003735.3

p.F75L

c.223T>C

1 paper

NM_003735.3

p.Q73R

c.218A>G

1 paper

NM_003735.3

p.E149E

c.447G>A

1 paper

NM_003735.3

p.G63R

c.187G>A

1 paper

NM_003735.3

p.G63R

c.187G>C

1 paper

NM_003735.3

p.E58K

c.172G>A

1 paper

NM_003735.3

p.Q168delFs

c.504delG

1 paper

NM_003735.3

p.Y170N

c.508T>A

1 paper

NM_003735.3

p.S49Y

c.146C>A