Varaico: Literature-Extracted Genetic Variants

Gene:PCDH11Y
Variant:p.T546A

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.T546A
c.1636A>G
Surrounding Variants
1 paper
NM_001395587.1
p.T535A
c.1603A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."