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.L78delFs

c.234delC

Surrounding Variants

1 paper

NM_019120.5

p.L76L

c.228G>A

1 paper

NM_019120.5

p.E94D

c.282G>T

3 papers

NM_019120.5

p.L55P

c.164T>C

1 paper

NM_019120.5

p.K51M

c.152A>T

1 paper

NM_019120.5

p.F45fs

c.133_134fs

1 paper

NM_019120.5

p.P114P

c.342C>T

1 paper

NM_019120.5

p.Q119*

c.355C>T

1 paper

NM_019120.5

p.D129H

c.385G>C

1 paper

NM_019120.5

p.L23S

c.68T>C

1 paper

NM_019120.5

p.K142ins1

c.425_426insCCA

1 paper

NM_019120.5

p.S146C

c.436A>T

1 paper

NM_019120.5

p.R10K

c.29G>A