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.V252I

c.754G>A

Surrounding Variants

1 paper

NM_018922.3

p.V258M

c.772G>A

1 paper

NM_018922.3

p.V258A

c.773T>C

1 paper

NM_018922.3

p.A263V

c.788C>T

1 paper

NM_018922.3

p.V238M

c.712G>A

1 paper

NM_018922.3

p.W226_T230delFs

c.677_689del13

1 paper

NM_018922.3

p.W226_T230del5

c.676_689del15

1 paper

NM_018922.3

p.S281F

c.842C>T

1 paper

NM_018922.3

p.P282S

c.844C>T

1 paper

NM_018922.3

p.G221D

c.662G>A

1 paper

NM_018922.3

p.I283V

c.847A>G

1 paper

NM_018922.3

p.G214G

c.642C>T

2 papers

NM_018922.3

p.T179M

c.536C>T