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.H439R

c.1316A>G

Surrounding Variants

1 paper

NM_003736.4

p.P429L

c.1286C>T

1 paper

NM_003736.4

p.Q452delFs

c.1354_1355delCA

1 paper

NM_003736.4

p.G426S

c.1276G>A

1 paper

NM_003736.4

p.R425Q

c.1274G>A

1 paper

NM_003736.4

p.I456T

c.1367T>C

1 paper

NM_003736.4

p.V420I

c.1258G>A

1 paper

NM_003736.4

p.P465S

c.1393C>T

1 paper

NM_003736.4

p.G466*

c.1396G>T

1 paper

NM_003736.4

p.R410H

c.1229G>A

1 paper

NM_003736.4

p.Y400*

c.1200T>A

1 paper

NM_003736.4

p.Y400*

c.1200T>G

1 paper

NM_003736.4

p.F390L

c.1170T>A