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

Selected Variant

1 paper

NM_018929.3

p.G726delFs

c.2176delG

Surrounding Variants

1 paper

NM_018929.3

p.G726fs

c.2176_2177fs

1 paper

NM_018929.3

p.Q718K

c.2152C>A

2 papers

NM_018929.3

p.A714A

c.2142G>T

1 paper

NM_018929.3

p.S705F

c.2114C>T

1 paper

NM_018929.3

p.V701I

c.2101G>A

1 paper

NM_018929.3

p.P684L

c.2051C>T

1 paper

NM_018929.3

p.S655S

c.1965A>G

1 paper

NM_018929.3

p.D638E

c.1914C>A

1 paper

NM_018929.3

p.D638E

c.1914C>G

1 paper

NM_018929.3

p.E627*

c.1879G>T

1 paper

NM_018929.3

p.G626S

c.1876G>A

1 paper

NM_018929.3

p.A603V

c.1808C>T