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.A5_G6del1

c.14_16delCCG

Surrounding Variants

1 paper

NM_003736.4

p.L14_V16del3

c.40_47del9

2 papers

NM_003736.4

p.P15_L17del0

c.44_49del6

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

1 paper

NM_003736.4

p.P100S

c.298C>T

1 paper

NM_003736.4

p.E122*

c.364G>T

1 paper

NM_003736.4

p.T134M

c.401C>T

2 papers

NM_003736.4

p.S137F

c.410C>T

1 paper

NM_003736.4

p.Q147*

c.439C>T

1 paper

NM_003736.4

p.L154I

c.460T>A

1 paper

NM_003736.4

p.G163R

c.487G>C