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.I144M

c.432T>G

Surrounding Variants

1 paper

NM_002588.4

p.P150S

c.448C>T

1 paper

NM_002588.4

p.E139_M140delFs

c.416_419del4

1 paper

NM_002588.4

p.R153P

c.458G>C

1 paper

NM_002588.4

p.H160H

c.480C>T

1 paper

NM_002588.4

p.E173K

c.517G>A

1 paper

NM_002588.4

p.Y179C

c.536A>G

1 paper

NM_002588.4

p.A181T

c.541G>A

1 paper

NM_002588.4

p.R183C

c.547C>T

1 paper

NM_002588.4

p.T186S

c.556A>T

1 paper

NM_002588.4

p.T191I

c.572C>T

1 paper

NM_002588.4

p.E95Q

c.283G>C

1 paper

NM_002588.4

p.D93delFs

c.279delT