Varaico: Literature-Extracted Genetic Variants

PCDHGC3

51 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_tailaa 12–134UCSCCadherin C-terminal cytoplasmic tail, catenin-binding region

Cadherin_2aa 32–114UCSCCadherin-like

Cadherinaa 140–235UCSCCadherin domain

Cadherinaa 249–343UCSCCadherin domain

Cadherinaa 359–448UCSCCadherin domain

Cadherinaa 462–558UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily C, 3

HGNC Alias Symbols

PC-43; PC43; PCDH-GAMMA-C3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002588.4

p.V88M

c.262G>A

Surrounding Variants

1 paper

NM_002588.4

p.V88ins1

c.263_264insTCA

1 paper

NM_002588.4

p.R91G

c.271C>G

1 paper

NM_002588.4

p.D93fs

c.277_278fs

1 paper

NM_002588.4

p.D93delFs

c.279delT

1 paper

NM_002588.4

p.E95Q

c.283G>C

1 paper

NM_002588.4

p.R67L

c.200G>T

1 paper

NM_002588.4

p.F45L

c.135C>A

1 paper

NM_002588.4

p.F45L

c.135C>G

1 paper

NM_002588.4

p.F45L

c.133T>C

1 paper

NM_002588.4

p.E139_M140delFs

c.416_419del4

1 paper

NM_002588.4

p.I144M

c.432T>G

1 paper

NM_002588.4

p.N27K

c.81C>G