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

1 paper

NM_018922.3

p.T34S

c.100A>T

Surrounding Variants

1 paper

NM_018922.3

p.A26D

c.77C>A

1 paper

NM_018922.3

p.R44G

c.130C>G

1 paper

NM_018922.3

p.R44Q

c.131G>A

1 paper

NM_018922.3

p.E58Q

c.172G>C

1 paper

NM_018922.3

p.L59delFs

c.175delT

1 paper

NM_018922.3

p.R62Q

c.185G>A

1 paper

NM_018922.3

p.L76_E77delFs

c.226_230del5

1 paper

NM_018922.3

p.R89Q

c.266G>A

1 paper

NM_018922.3

p.C93delFs

c.277delT

1 paper

NM_018922.3

p.L97F

c.289C>T

1 paper

NM_018922.3

p.T105M

c.314C>T

1 paper

NM_018922.3

p.M111V

c.331A>G