Varaico: Literature-Extracted Genetic Variants

PCDHA5

93 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 29–111UCSCCadherin-like

Cadherinaa 137–232UCSCCadherin domain

Cadherinaa 246–340UCSCCadherin domain

Cadherinaa 356–445UCSCCadherin domain

Cadherinaa 459–555UCSCCadherin domain

Cadherinaa 578–669UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin alpha 5

HGNC Previous Symbol

CNRS6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018908.3

p.G514S

c.1540G>A

Surrounding Variants

1 paper

NM_018908.3

p.A518V

c.1553C>T

1 paper

NM_018908.3

p.V509M

c.1525G>A

1 paper

NM_018908.3

p.L519P

c.1556T>C

2 papers

NM_018908.3

p.S508L

c.1523C>T

1 paper

NM_018908.3

p.L522M

c.1564C>A

1 paper

NM_018908.3

p.H524D

c.1570C>G

2 papers

NM_018908.3

p.E525K

c.1573G>A

1 paper

NM_018908.3

p.S535G

c.1603A>G

1 paper

NM_018908.3

p.S535S

c.1605C>T

3 papers

NM_018908.3

p.A536T

c.1606G>A

1 paper

NM_018908.3

p.R537H

c.1610G>A

1 paper

NM_018908.3

p.R537R

c.1611C>T