Varaico: Literature-Extracted Genetic Variants

Gene:CDH8
Variant:p.D669E

CDH8

138 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 66–158UCSCCadherin domain
Cadherinaa 172–267UCSCCadherin domain
Cadherinaa 281–383UCSCCadherin domain
Cadherinaa 396–487UCSCCadherin domain
Cadherinaa 500–597UCSCCadherin domain
CADH_Y-type_LIRaa 732–791UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 8

HGNC Previous Name

cadherin 8, type 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001796.5
p.D669E
c.2007T>A
Surrounding Variants
1 paper
NM_001796.5
p.D669E
c.2007T>G
3 papers
NM_001796.5
p.R666C
c.1996C>T
1 paper
NM_001796.5
p.E675E
c.2025G>A
2 papers
NM_001796.5
p.V660I
c.1978G>A
1 paper
NM_001796.5
p.D681H
c.2041G>C
1 paper
NM_001796.5
p.I682M
c.2046T>G
1 paper
NM_001796.5
p.L685L
c.2055A>G
1 paper
NM_001796.5
p.N687N
c.2061T>C
1 paper
NM_001796.5
p.R645W
c.1933C>T
1 paper
NM_001796.5
p.L695S
c.2084T>C
1 paper
NM_001796.5
p.L695F
c.2085A>T
1 paper
NM_001796.5
p.L695F
c.2085A>C
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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."