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.Q227H

c.681G>T

Surrounding Variants

1 paper

NM_003736.4

p.Q227H

c.681G>C

1 paper

NM_003736.4

p.N236D

c.706A>G

1 paper

NM_003736.4

p.R248T

c.743G>C

1 paper

NM_003736.4

p.S252*

c.755C>A

1 paper

NM_003736.4

p.S252*

c.755C>G

1 paper

NM_003736.4

p.G188C

c.562G>T

1 paper

NM_003736.4

p.D268H

c.802G>C

2 papers

NM_003736.4

p.V273G

c.818T>G

1 paper

NM_003736.4

p.L180R

c.539T>G

1 paper

NM_003736.4

p.G163R

c.487G>C

1 paper

NM_003736.4

p.L154I

c.460T>A

1 paper

NM_003736.4

p.Q147*

c.439C>T