Varaico: Literature-Extracted Genetic Variants

PCDHA8

106 papers

RefSeq Summary

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 139–233UCSCCadherin domain

Cadherinaa 247–341UCSCCadherin domain

Cadherinaa 355–446UCSCCadherin domain

Cadherinaa 460–556UCSCCadherin domain

Cadherinaa 581–670UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin alpha 8

HGNC Alias Name

KIAA0345-like 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018911.3

p.V66delFs

c.196delG

Surrounding Variants

2 papers

NM_018911.3

p.F64L

c.192C>A

2 papers

NM_018911.3

p.F64L

c.192C>G

1 paper

NM_018911.3

p.R65L

c.194G>T

2 papers

NM_018911.3

p.F64L

c.190T>C

3 papers

NM_018911.3

p.E55D

c.165G>C

3 papers

NM_018911.3

p.E55D

c.165G>T

1 paper

NM_018911.3

p.L74H

c.221T>A

2 papers

NM_018911.3

p.G53G

c.159G>A

2 papers

NM_018911.3

p.S78N

c.233G>A

1 paper

NM_018911.3

p.R47fs

c.139_140fs

1 paper

NM_018911.3

p.R47delFs

c.140delG

2 papers

NM_018911.3

p.P36S

c.106C>T