Varaico: Literature-Extracted Genetic Variants

PCDHGB1

76 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 30–109UCSCCadherin-like

Cadherinaa 135–230UCSCCadherin domain

Cadherinaa 244–334UCSCCadherin domain

Cadherinaa 348–439UCSCCadherin domain

Cadherinaa 453–549UCSCCadherin domain

Cadherinaa 574–659UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 1

HGNC Alias Symbol

PCDH-GAMMA-B1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018922.3

p.G734R

c.2200G>C

Surrounding Variants

2 papers

NM_018922.3

p.G734R

c.2200G>A

1 paper

NM_018922.3

p.S714C

c.2141C>G

1 paper

NM_018922.3

p.H755R

c.2264A>G

1 paper

NM_018922.3

p.T759A

c.2275A>G

1 paper

NM_018922.3

p.L700H

c.2099T>A

1 paper

NM_018922.3

p.M770I

c.2310G>A

1 paper

NM_018922.3

p.M770I

c.2310G>C

1 paper

NM_018922.3

p.M770I

c.2310G>T

1 paper

NM_018922.3

p.Y687C

c.2060A>G

1 paper

NM_018922.3

p.M783V

c.2347A>G

1 paper

NM_018922.3

p.P677_V689del13

c.2029_2066del39

1 paper

NM_018922.3

p.L800S

c.2399T>C