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.L338F

c.1012C>T

Surrounding Variants

1 paper

NM_018926.3

p.A321V

c.962C>T

1 paper

NM_018926.3

p.N359H

c.1075A>C

1 paper

NM_018926.3

p.G299D

c.896G>A

1 paper

NM_018926.3

p.H290L

c.869A>T

1 paper

NM_018926.3

p.K393N

c.1179G>C

1 paper

NM_018926.3

p.K393N

c.1179G>T

1 paper

NM_018926.3

p.A275S

c.823G>T

1 paper

NM_018926.3

p.A266_T267insFs

c.798_799ins4

1 paper

NM_018926.3

p.A266fs

c.796_797fs

1 paper

NM_018926.3

p.R427T

c.1280G>C

1 paper

NM_018926.3

p.P431fs

c.1291_1292fs

1 paper

NM_018926.3

p.P431_L432delFs

c.1293_1296del4