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.D55H

c.163G>C

Surrounding Variants

1 paper

NM_018928.3

p.L53_L59del0

c.159_176del18

1 paper

NM_018928.3

p.Q40*

c.118C>T

1 paper

NM_018928.3

p.E38insFs

c.114dupG

1 paper

NM_018928.3

p.R32H

c.95G>A

1 paper

NM_018928.3

p.D78V

c.233A>T

1 paper

NM_018928.3

p.D91N

c.271G>A

1 paper

NM_018928.3

p.R13R

c.39G>C

1 paper

NM_018928.3

p.R13P

c.38G>C

1 paper

NM_018928.3

p.R13R

c.37C>A

1 paper

NM_018928.3

p.R13W

c.37C>T

1 paper

NM_018928.3

p.F108delFs

c.324delT

1 paper

NM_018928.3

p.F108fs

c.322_323fs