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

1–12 of 94 variants

3 papers

NM_018922.3

p.F175delFs

c.524_525delTC

3 papers

NM_018922.3

p.F524_E525del2

c.1570_1574del6

2 papers

NM_018922.3

p.F175fs

c.523_524fs

2 papers

NM_018922.3

p.T179M

c.536C>T

2 papers

NM_018922.3

p.V252I

c.754G>A

2 papers

NM_018922.3

p.Q506E

c.1516C>G

2 papers

NM_018922.3

p.R514H

c.1541G>A

2 papers

NM_018922.3

p.G734R

c.2200G>A

2 papers

NM_018922.3

p.G734R

c.2200G>C

1 paper

NM_018922.3

p.A26D

c.77C>A

1 paper

NM_018922.3

p.T34S

c.100A>T

1 paper

NM_018922.3

p.R44G

c.130C>G