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

2 papers

NM_003736.4

p.R497Q

c.1490G>A

Surrounding Variants

1 paper

NM_003736.4

p.V503M

c.1507G>A

1 paper

NM_003736.4

p.A491D

c.1472C>A

1 paper

NM_003736.4

p.S506S

c.1518C>T

1 paper

NM_003736.4

p.A507T

c.1519G>A

1 paper

NM_003736.4

p.A507V

c.1520C>T

1 paper

NM_003736.4

p.G510R

c.1528G>A

1 paper

NM_003736.4

p.G510R

c.1528G>C

1 paper

NM_003736.4

p.E521Q

c.1561G>C

1 paper

NM_003736.4

p.R524H

c.1571G>A

1 paper

NM_003736.4

p.G466*

c.1396G>T

1 paper

NM_003736.4

p.P465S

c.1393C>T

1 paper

NM_003736.4

p.I456T

c.1367T>C