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

1–12 of 84 variants

4 papers

NM_003736.4

p.G613A

c.1838G>C

2 papers

NM_003736.4

p.P15_L17del0

c.44_49del6

2 papers

NM_003736.4

p.S137F

c.410C>T

2 papers

NM_003736.4

p.V273G

c.818T>G

2 papers

NM_003736.4

p.H439R

c.1316A>G

2 papers

NM_003736.4

p.R497Q

c.1490G>A

2 papers

NM_003736.4

p.D551G

c.1652A>G

1 paper

NM_003736.4

p.A5_G6del1

c.14_16delCCG

1 paper

NM_003736.4

p.L14_V16del3

c.40_47del9

1 paper

NM_003736.4

p.I33F

c.97A>T

1 paper

NM_003736.4

p.M41_V46del6

c.121_137del18

1 paper

NM_003736.4

p.G44_N49del6

c.130_146del18