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.D159D

c.477T>C

Surrounding Variants

1 paper

NM_018928.3

p.D159G

c.476A>G

1 paper

NM_018928.3

p.P153L

c.458C>T

1 paper

NM_018928.3

p.N175S

c.524A>G

1 paper

NM_018928.3

p.P134L

c.401C>T

1 paper

NM_018928.3

p.L190L

c.570G>A

1 paper

NM_018928.3

p.V121L

c.361G>C

2 papers

NM_018928.3

p.R118Q

c.353G>A

1 paper

NM_018928.3

p.R202Q

c.605G>A

1 paper

NM_018928.3

p.Q205H

c.615A>C

1 paper

NM_018928.3

p.Q205H

c.615A>T

1 paper

NM_018928.3

p.G112S

c.334G>A

1 paper

NM_018928.3

p.R209C

c.625C>T