Varaico: Literature-Extracted Genetic Variants

PCDHA11

80 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 247–340UCSCCadherin domain

Cadherinaa 354–445UCSCCadherin domain

Cadherinaa 459–555UCSCCadherin domain

Cadherinaa 580–669UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin alpha 11

HGNC Previous Symbol

CNRS7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018902.5

p.Y626H

c.1876T>C

Surrounding Variants

1 paper

NM_018902.5

p.E629K

c.1885G>A

2 papers

NM_018902.5

p.R622H

c.1865G>A

1 paper

NM_018902.5

p.I630V

c.1888A>G

1 paper

NM_018902.5

p.R622C

c.1864C>T

1 paper

NM_018902.5

p.P620T

c.1858C>A

2 papers

NM_018902.5

p.T633M

c.1898C>T

1 paper

NM_018902.5

p.R618C

c.1852C>T

1 paper

NM_018902.5

p.R634C

c.1900C>T

1 paper

NM_018902.5

p.G616S

c.1846G>A

1 paper

NM_018902.5

p.E638K

c.1912G>A

1 paper

NM_018902.5

p.A613V

c.1838C>T

1 paper

NM_018902.5

p.P642S

c.1924C>T