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.N442N

c.1326C>T

Surrounding Variants

1 paper

NM_018922.3

p.A472V

c.1415C>T

1 paper

NM_018922.3

p.T411K

c.1232C>A

1 paper

NM_018922.3

p.R408Q

c.1223G>A

1 paper

NM_018922.3

p.R408R

c.1222C>A

1 paper

NM_018922.3

p.S484F

c.1451C>T

1 paper

NM_018922.3

p.K399E

c.1195A>G

1 paper

NM_018922.3

p.V503M

c.1507G>A

1 paper

NM_018922.3

p.V503V

c.1509G>A

1 paper

NM_018922.3

p.P505A

c.1513C>G

2 papers

NM_018922.3

p.Q506E

c.1516C>G

2 papers

NM_018922.3

p.R514H

c.1541G>A

1 paper

NM_018922.3

p.D517N

c.1549G>A