Varaico: Literature-Extracted Genetic Variants

PCDHGB4

71 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 32–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–336UCSCCadherin domain

Cadherinaa 353–441UCSCCadherin domain

Cadherinaa 455–551UCSCCadherin domain

Cadherinaa 575–661UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 4

HGNC Alias Symbols

FIB2; PCDH-GAMMA-B4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003736.4

p.P738delFs

c.2212delC

Surrounding Variants

1 paper

NM_003736.4

p.P738insFs

c.2212dupC

1 paper

NM_003736.4

p.V737fs

c.2209_2210fs

1 paper

NM_003736.4

p.S735F

c.2204C>T

1 paper

NM_003736.4

p.C730fs

c.2188_2189fs

1 paper

NM_003736.4

p.W722*

c.2166G>A

1 paper

NM_003736.4

p.W722*

c.2165G>A

1 paper

NM_003736.4

p.R712H

c.2135G>A

1 paper

NM_003736.4

p.A708V

c.2123C>T

1 paper

NM_003736.4

p.Q770*

c.2308C>T

1 paper

NM_003736.4

p.V699M

c.2095G>A

1 paper

NM_003736.4

p.D664N

c.1990G>A

1 paper

NM_003736.4

p.R639C

c.1915C>T