Varaico: Literature-Extracted Genetic Variants

PCDHGB7

42 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 247–338UCSCCadherin domain

Cadherinaa 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 577–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 7

HGNC Alias Symbols

ME6; PCDH-GAMMA-B7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 50 variants

3 papers

NM_018927.4

p.V405L

c.1213G>C

3 papers

NM_018927.4

p.V405L

c.1213G>T

2 papers

NM_018927.4

p.G485R

c.1453G>C

1 paper

NM_018927.4

p.T28M

c.83C>T

1 paper

NM_018927.4

p.P32L

c.95C>T

1 paper

NM_018927.4

p.I33V

c.97A>G

1 paper

NM_018927.4

p.I33delFs

c.99delC

1 paper

NM_018927.4

p.V68V

c.204G>T

1 paper

NM_018927.4

p.R99del1

c.295_296delAGA

1 paper

NM_018927.4

p.R101T

c.302G>C

1 paper

NM_018927.4

p.A130T

c.388G>A

1 paper

NM_018927.4

p.I142N

c.425T>A