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.V385M

c.1153G>A

Surrounding Variants

1 paper

NM_018928.3

p.G383R

c.1147G>A

1 paper

NM_018928.3

p.K398Q

c.1192A>C

1 paper

NM_018928.3

p.E361A

c.1082A>C

1 paper

NM_018928.3

p.P412H

c.1235C>A

1 paper

NM_018928.3

p.L413delFs

c.1237_1238delTT

1 paper

NM_018928.3

p.G357R

c.1069G>C

1 paper

NM_018928.3

p.L413fs

c.1237_1238fs

1 paper

NM_018928.3

p.L413ins1

c.1238_1239insAAG

1 paper

NM_018928.3

p.R415*

c.1243C>T

1 paper

NM_018928.3

p.R415R

c.1245A>T

1 paper

NM_018928.3

p.R439K

c.1316G>A

1 paper

NM_018928.3

p.D319H

c.955G>C