Varaico: Literature-Extracted Genetic Variants

Gene:CDH11
Variant:p.E40K

CDH11

244 papers

RefSeq Summary

This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a l...

Pfam Domains

Cadherinaa 58–150UCSCCadherin domain
Cadherinaa 164–259UCSCCadherin domain
Cadherinaa 273–375UCSCCadherin domain
Cadherinaa 388–479UCSCCadherin domain
CADH_Y-type_LIRaa 728–787UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 11

HGNC Alias Symbols

OB; CAD11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001797.4
p.E40K
c.118G>A
Surrounding Variants
1 paper
NM_001797.4
p.E40Q
c.118G>C
1 paper
NM_001797.4
p.G42S
c.124G>A
1 paper
NM_001797.4
p.G37E
c.110G>A
2 papers
NM_001797.4
p.K43*
c.127A>T
1 paper
NM_001797.4
p.K43R
c.128A>G
1 paper
NM_001797.4
p.E44D
c.132G>T
1 paper
NM_001797.4
p.E44D
c.132G>C
4 papers
NM_001797.4
p.V47M
c.139G>A
3 papers
NM_001797.4
p.R32Q
c.95G>A
2 papers
NM_001797.4
p.R32W
c.94C>T
1 paper
NM_001797.4
p.G29G
c.87G>A
1 paper
NM_001797.4
p.R28fs
c.82_83fs
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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."