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.D551G

c.1652A>G

Surrounding Variants

1 paper

NM_003736.4

p.R553H

c.1658G>A

1 paper

NM_003736.4

p.V544V

c.1632G>C

1 paper

NM_003736.4

p.A542G

c.1625C>G

1 paper

NM_003736.4

p.A564T

c.1690G>A

1 paper

NM_003736.4

p.A564V

c.1691C>T

1 paper

NM_003736.4

p.D568D

c.1704C>T

1 paper

NM_003736.4

p.R524H

c.1571G>A

1 paper

NM_003736.4

p.E521Q

c.1561G>C

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.D593H

c.1777G>C

1 paper

NM_003736.4

p.A507V

c.1520C>T