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.G485S

c.1453G>A

Surrounding Variants

1 paper

NM_018926.3

p.N484T

c.1451A>C

1 paper

NM_018926.3

p.A476T

c.1426G>A

1 paper

NM_018926.3

p.A472V

c.1415C>T

1 paper

NM_018926.3

p.I471S

c.1412T>G

1 paper

NM_018926.3

p.P467fs

c.1399_1400fs

1 paper

NM_018926.3

p.A509V

c.1526C>T

1 paper

NM_018926.3

p.V458M

c.1372G>A

1 paper

NM_018926.3

p.F515F

c.1545C>T

1 paper

NM_018926.3

p.A516T

c.1546G>A

2 papers

NM_018926.3

p.D453N

c.1357G>A

1 paper

NM_018926.3

p.I445delFs

c.1334_1335delTC

1 paper

NM_018926.3

p.I445del1

c.1333_1334delATC