Varaico: Literature-Extracted Genetic Variants

PCDH11Y

19 papers

RefSeq Summary

This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domai...

Pfam Domains

Cadherin_2aa 57–147UCSCCadherin-like

Cadherinaa 84–180UCSCCadherin domain

Cadherinaa 194–286UCSCCadherin domain

Cadherinaa 306–397UCSCCadherin domain

Cadherinaa 411–501UCSCCadherin domain

Cadherinaa 515–604UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 11 Y-linked

HGNC Previous Symbol

PCDH22

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001395587.1

p.V83A

c.248T>C

Surrounding Variants

1 paper

NM_001395587.1

p.I72T

c.215T>C

1 paper

NM_001395587.1

p.A53D

c.158C>A

2 papers

NM_001395587.1

p.E49K

c.145G>A