Varaico: Literature-Extracted Genetic Variants

PCDHGB5

35 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 247–334UCSCCadherin domain

Cadherinaa 351–439UCSCCadherin domain

Cadherinaa 453–549UCSCCadherin domain

Cadherinaa 574–659UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 5

HGNC Alias Symbol

PCDH-GAMMA-B5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 44 variants

2 papers

NM_018925.3

p.G188S

c.562G>A

2 papers

NM_018925.3

p.E609K

c.1825G>A

1 paper

NM_018925.3

p.V46I

c.136G>A

1 paper

NM_018925.3

p.P100A

c.298C>G

1 paper

NM_018925.3

p.I126V

c.376A>G

1 paper

NM_018925.3

p.P131R

c.392C>G

1 paper

NM_018925.3

p.S137F

c.410C>T

1 paper

NM_018925.3

p.R151I

c.452G>T

1 paper

NM_018925.3

p.K169*

c.505A>T

1 paper

NM_018925.3

p.S189G

c.565A>G

1 paper

NM_018925.3

p.N236K

c.708T>G

1 paper

NM_018925.3

p.D245D

c.735C>T