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

Selected Variant

1 paper

NM_018927.4

p.D557E

c.1671C>G

Surrounding Variants

1 paper

NM_018927.4

p.D557E

c.1671C>A

1 paper

NM_018927.4

p.R549H

c.1646G>A

1 paper

NM_018927.4

p.G571S

c.1711G>A

1 paper

NM_018927.4

p.A582T

c.1744G>A

1 paper

NM_018927.4

p.T531insFs

c.1591dupA

1 paper

NM_018927.4

p.V594M

c.1780G>A

1 paper

NM_018927.4

p.D597N

c.1789G>A

1 paper

NM_018927.4

p.Y504D

c.1510T>G

1 paper

NM_018927.4

p.D495E

c.1485C>A

1 paper

NM_018927.4

p.D495E

c.1485C>G

1 paper

NM_018927.4

p.I492M

c.1476T>G

1 paper

NM_018927.4

p.S488F

c.1463C>T