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.R549R

c.1647C>T

Surrounding Variants

1 paper

NM_019120.5

p.R549C

c.1645C>T

1 paper

NM_019120.5

p.V552L

c.1654G>C

1 paper

NM_019120.5

p.V552L

c.1654G>T

1 paper

NM_019120.5

p.A546A

c.1638G>A

1 paper

NM_019120.5

p.A541A

c.1623T>G

1 paper

NM_019120.5

p.P540T

c.1618C>A

1 paper

NM_019120.5

p.S535A

c.1603T>G

1 paper

NM_019120.5

p.A534delFs

c.1601_1602delCT

1 paper

NM_019120.5

p.A534del1

c.1600_1601delGCT

1 paper

NM_019120.5

p.G533S

c.1597G>A

2 papers

NM_019120.5

p.G569S

c.1705G>A

1 paper

NM_019120.5

p.E575K

c.1723G>A