Varaico: Literature-Extracted Genetic Variants

PCDHB8

111 papers

RefSeq Summary

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization simil...

Pfam Domains

Cadherin_2aa 31–113UCSCCadherin-like

Cadherinaa 140–234UCSCCadherin domain

Cadherinaa 248–339UCSCCadherin domain

Cadherinaa 353–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 576–664UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 8

HGNC Alias Symbols

PCDH-BETA8; PCDH3I

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019120.5

p.I173N

c.518T>A

Surrounding Variants

1 paper

NM_019120.5

p.E169D

c.507G>T

1 paper

NM_019120.5

p.Y178C

c.533A>G

1 paper

NM_019120.5

p.Y178delFs

c.534delT

1 paper

NM_019120.5

p.R180W

c.538C>T

1 paper

NM_019120.5

p.R180Q

c.539G>A

1 paper

NM_019120.5

p.I163V

c.487A>G

1 paper

NM_019120.5

p.D162H

c.484G>C

1 paper

NM_019120.5

p.R186H

c.557G>A

1 paper

NM_019120.5

p.A158V

c.473C>T

2 papers

NM_019120.5

p.A152A

c.456G>A

2 papers

NM_019120.5

p.A152V

c.455C>T

1 paper

NM_019120.5

p.A152T

c.454G>A