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.G260S

c.778G>A

Surrounding Variants

1 paper

NM_002588.4

p.P258S

c.772C>T

1 paper

NM_002588.4

p.V263_V264insTCA

c.787_791ins9

1 paper

NM_002588.4

p.D256G

c.767A>G

1 paper

NM_002588.4

p.L254P

c.761T>C

1 paper

NM_002588.4

p.N240D

c.718A>G

1 paper

NM_002588.4

p.K233R

c.698A>G

1 paper

NM_002588.4

p.T215delFs

c.644delC

1 paper

NM_002588.4

p.E207*

c.619G>T

1 paper

NM_002588.4

p.T191I

c.572C>T

1 paper

NM_002588.4

p.G333E

c.998G>A

1 paper

NM_002588.4

p.T186S

c.556A>T

1 paper

NM_002588.4

p.C336Y

c.1007G>A