Varaico: Literature-Extracted Genetic Variants

PCDHGB6

69 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 32–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 577–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 6

HGNC Alias Symbol

PCDH-GAMMA-B6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018926.3

p.A266fs

c.796_797fs

Surrounding Variants

1 paper

NM_018926.3

p.A266_T267insFs

c.798_799ins4

1 paper

NM_018926.3

p.A275S

c.823G>T

1 paper

NM_018926.3

p.H290L

c.869A>T

1 paper

NM_018926.3

p.V241F

c.721G>T

1 paper

NM_018926.3

p.G299D

c.896G>A

1 paper

NM_018926.3

p.A321V

c.962C>T

1 paper

NM_018926.3

p.L338F

c.1012C>T

1 paper

NM_018926.3

p.G189D

c.566G>A

1 paper

NM_018926.3

p.N359H

c.1075A>C

1 paper

NM_018926.3

p.I172I

c.516A>T

1 paper

NM_018926.3

p.Y170F

c.509A>T

1 paper

NM_018926.3

p.D159V

c.476A>T