Varaico: Literature-Extracted Genetic Variants

PCDHGC5

39 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 248–341UCSCCadherin domain

Cadherinaa 357–445UCSCCadherin domain

Cadherinaa 459–555UCSCCadherin domain

Cadherinaa 577–667UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily C, 5

HGNC Alias Symbol

PCDH-GAMMA-C5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

2 papers

NM_018929.3

p.R248C

c.742C>T

2 papers

NM_018929.3

p.D570G

c.1709A>G

2 papers

NM_018929.3

p.A714A

c.2142G>T

1 paper

NM_018929.3

p.C23Y

c.68G>A

1 paper

NM_018929.3

p.L64V

c.190C>G

1 paper

NM_018929.3

p.N87S

c.260A>G

1 paper

NM_018929.3

p.K89M

c.266A>T

1 paper

NM_018929.3

p.E93*

c.277G>T

1 paper

NM_018929.3

p.S101S

c.303C>T

1 paper

NM_018929.3

p.L104L

c.312G>A

1 paper

NM_018929.3

p.V106A

c.317T>C

1 paper

NM_018929.3

p.N127D

c.379A>G