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.D517N

c.1549G>A

Surrounding Variants

2 papers

NM_018922.3

p.R514H

c.1541G>A

1 paper

NM_018922.3

p.R522_L526del5

c.1564_1577del15

3 papers

NM_018922.3

p.F524_E525del2

c.1570_1574del6

1 paper

NM_018922.3

p.T527T

c.1581A>G

2 papers

NM_018922.3

p.Q506E

c.1516C>G

1 paper

NM_018922.3

p.P505A

c.1513C>G

1 paper

NM_018922.3

p.V503V

c.1509G>A

1 paper

NM_018922.3

p.V503M

c.1507G>A

1 paper

NM_018922.3

p.R531S

c.1593G>C

1 paper

NM_018922.3

p.R531S

c.1593G>T

1 paper

NM_018922.3

p.G534C

c.1600G>T

1 paper

NM_018922.3

p.R545P

c.1634G>C