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.G587delFs

c.1761delC

Surrounding Variants

1 paper

NM_002588.4

p.Y608H

c.1822T>C

1 paper

NM_002588.4

p.R560H

c.1679G>A

1 paper

NM_002588.4

p.N615K

c.1845C>A

1 paper

NM_002588.4

p.N615K

c.1845C>G

1 paper

NM_002588.4

p.H538P

c.1613A>C

1 paper

NM_002588.4

p.T659fs

c.1975_1976fs

1 paper

NM_002588.4

p.T659delFs

c.1977delT

1 paper

NM_002588.4

p.K687E

c.2059A>G

1 paper

NM_002588.4

p.K687*

c.2059A>T

1 paper

NM_002588.4

p.L695F

c.2083C>T

1 paper

NM_002588.4

p.G704E

c.2111G>A

1 paper

NM_002588.4

p.F705F

c.2115T>C