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.I336V

c.1006A>G

Surrounding Variants

1 paper

NM_003736.4

p.A327A

c.981G>A

1 paper

NM_003736.4

p.A327V

c.980C>T

1 paper

NM_003736.4

p.F390L

c.1168T>C

1 paper

NM_003736.4

p.F390L

c.1170T>A

1 paper

NM_003736.4

p.F390L

c.1170T>G

2 papers

NM_003736.4

p.V273G

c.818T>G

1 paper

NM_003736.4

p.Y400*

c.1200T>A

1 paper

NM_003736.4

p.Y400*

c.1200T>G

1 paper

NM_003736.4

p.D268H

c.802G>C

1 paper

NM_003736.4

p.R410H

c.1229G>A

1 paper

NM_003736.4

p.S252*

c.755C>A

1 paper

NM_003736.4

p.S252*

c.755C>G