Varaico: Literature-Extracted Genetic Variants

PCDHGC4

52 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 247–341UCSCCadherin domain

Cadherinaa 356–446UCSCCadherin domain

Cadherinaa 460–556UCSCCadherin domain

Cadherinaa 581–666UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily C, 4

HGNC Alias Symbol

PCDH-GAMMA-C4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018928.3

p.G275S

c.823G>A

Surrounding Variants

1 paper

NM_018928.3

p.S274N

c.821G>A

1 paper

NM_018928.3

p.H284ins7

c.851_852ins21

1 paper

NM_018928.3

p.R290K

c.869G>A

1 paper

NM_018928.3

p.S294N

c.881G>A

1 paper

NM_018928.3

p.P297T

c.889C>A

1 paper

NM_018928.3

p.E253K

c.757G>A

1 paper

NM_018928.3

p.R248W

c.742A>T

1 paper

NM_018928.3

p.S245F

c.734C>T

1 paper

NM_018928.3

p.Q243*

c.727C>T

1 paper

NM_018928.3

p.F242_Q243delins

c.726_727delinsTT

1 paper

NM_018928.3

p.E313K

c.937G>A

1 paper

NM_018928.3

p.E313E

c.939G>A