Varaico: Literature-Extracted Genetic Variants

Gene:CDH8
Variant:p.Q110*

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
2 papers
NM_001796.5
p.Q110*
c.328C>T
Surrounding Variants
1 paper
NM_001796.5
p.I111L
c.331A>T
1 paper
NM_001796.5
p.I108M
c.324A>G
1 paper
NM_001796.5
p.G106W
c.316G>T
1 paper
NM_001796.5
p.V114I
c.340G>A
1 paper
NM_001796.5
p.V114V
c.342A>G
1 paper
NM_001796.5
p.R123T
c.368G>C
1 paper
NM_001796.5
p.R126W
c.376C>T
3 papers
NM_001796.5
p.R126L
c.377G>T
1 paper
NM_001796.5
p.R126P
c.377G>C
2 papers
NM_001796.5
p.R126Q
c.377G>A
1 paper
NM_001796.5
p.E128K
c.382G>A
1 paper
NM_001796.5
p.K129T
c.386A>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."