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

3 papers

NM_018922.3

p.F175delFs

c.524_525delTC

Surrounding Variants

2 papers

NM_018922.3

p.F175fs

c.523_524fs

1 paper

NM_018922.3

p.F175del1

c.523_524delTTC

1 paper

NM_018922.3

p.Y174_S176delFs

c.522_526del5

1 paper

NM_018922.3

p.Y174fs

c.520_521fs

2 papers

NM_018922.3

p.T179M

c.536C>T

1 paper

NM_018922.3

p.T168A

c.502A>G

1 paper

NM_018922.3

p.E160V

c.479A>T

1 paper

NM_018922.3

p.S153F

c.458C>T

1 paper

NM_018922.3

p.P145L

c.434C>T

1 paper

NM_018922.3

p.E138D

c.414A>C

1 paper

NM_018922.3

p.E138D

c.414A>T

1 paper

NM_018922.3

p.G214G

c.642C>T