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.H778H

c.2334T>C

Surrounding Variants

1 paper

NM_019120.5

p.H778N

c.2332C>A

1 paper

NM_019120.5

p.M784I

c.2352G>A

1 paper

NM_019120.5

p.M784I

c.2352G>C

1 paper

NM_019120.5

p.M784I

c.2352G>T

3 papers

NM_019120.5

p.L767F

c.2299C>T

1 paper

NM_019120.5

p.Q766R

c.2297A>G

1 paper

NM_019120.5

p.G793D

c.2378G>A

1 paper

NM_019120.5

p.G793A

c.2378G>C

1 paper

NM_019120.5

p.E764*

c.2290G>T

1 paper

NM_019120.5

p.S797N

c.2390G>A

1 paper

NM_019120.5

p.G758*

c.2272G>T

1 paper

NM_019120.5

p.E753E

c.2259G>A