Varaico: Literature-Extracted Genetic Variants

Gene:CDH9
Variant:p.R49C

CDH9

134 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 59–150UCSCCadherin domain
Cadherinaa 164–259UCSCCadherin domain
Cadherinaa 273–375UCSCCadherin domain
Cadherinaa 388–479UCSCCadherin domain
Cadherinaa 492–589UCSCCadherin domain
CADH_Y-type_LIRaa 723–782UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 9

HGNC Previous Name

cadherin 9, type 2 (T1-cadherin)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016279.4
p.R49C
c.145C>T
Surrounding Variants
2 papers
NM_016279.4
p.R49H
c.146G>A
2 papers
NM_016279.4
p.R50C
c.148C>T
1 paper
NM_016279.4
p.R50H
c.149G>A
1 paper
NM_016279.4
p.K52E
c.154A>G
1 paper
NM_016279.4
p.G45S
c.133G>A
2 papers
NM_016279.4
p.R53H
c.158G>A
1 paper
NM_016279.4
p.G54D
c.161G>A
1 paper
NM_016279.4
p.T41K
c.122C>A
1 paper
NM_016279.4
p.Q59*
c.175C>T
1 paper
NM_016279.4
p.Q59L
c.176A>T
2 papers
NM_016279.4
p.A38V
c.113C>T
1 paper
NM_016279.4
p.A38T
c.112G>A
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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."