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.L469P

c.1406T>C

Surrounding Variants

1 paper

NM_019120.5

p.N464K

c.1392C>A

1 paper

NM_019120.5

p.N464K

c.1392C>G

1 paper

NM_019120.5

p.V474I

c.1420G>A

1 paper

NM_019120.5

p.F460S

c.1379T>C

2 papers

NM_019120.5

p.N448N

c.1344C>T

2 papers

NM_019120.5

p.V440L

c.1318G>C

2 papers

NM_019120.5

p.V440L

c.1318G>T

1 paper

NM_019120.5

p.M438T

c.1313T>C

2 papers

NM_019120.5

p.N437H

c.1309A>C

1 paper

NM_019120.5

p.L436L

c.1308C>G

1 paper

NM_019120.5

p.N511Y

c.1531A>T

1 paper

NM_019120.5

p.T425_D426insCCA

c.1273_1277ins9