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

2 papers

NM_019120.5

p.S745N

c.2234G>A

Surrounding Variants

1 paper

NM_019120.5

p.G744G

c.2232G>A

1 paper

NM_019120.5

p.N749delFs

c.2245delA

1 paper

NM_019120.5

p.N749fs

c.2245_2246fs

1 paper

NM_019120.5

p.V740V

c.2220G>C

1 paper

NM_019120.5

p.E753E

c.2259G>A

1 paper

NM_019120.5

p.H736R

c.2207A>G

1 paper

NM_019120.5

p.G735R

c.2203G>A

1 paper

NM_019120.5

p.G735R

c.2203G>C

1 paper

NM_019120.5

p.G735W

c.2203G>T

1 paper

NM_019120.5

p.P734L

c.2201C>T

1 paper

NM_019120.5

p.G758*

c.2272G>T

1 paper

NM_019120.5

p.E764*

c.2290G>T