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.G746R

c.2236G>A

Surrounding Variants

1 paper

NM_018926.3

p.G746R

c.2236G>C

1 paper

NM_018926.3

p.S751F

c.2252C>T

1 paper

NM_018926.3

p.H758L

c.2273A>T

1 paper

NM_018926.3

p.A722T

c.2164G>A

1 paper

NM_018926.3

p.R717C

c.2149C>T

1 paper

NM_018926.3

p.P790delFs

c.2368delC

1 paper

NM_018926.3

p.P790fs

c.2368_2369fs

1 paper

NM_018926.3

p.T798_S799ins4

c.2392_2396ins12

1 paper

NM_018926.3

p.S806L

c.2417C>T

1 paper

NM_018926.3

p.P684S

c.2050C>T

1 paper

NM_018926.3

p.T657A

c.1969A>G

1 paper

NM_018926.3

p.P652T

c.1954C>A