Varaico: Literature-Extracted Genetic Variants

Gene:CDH20
Variant:p.D600N

CDH20

107 papers

RefSeq Summary

This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependen...

Pfam Domains

Cadherinaa 64–156UCSCCadherin domain
Cadherinaa 170–265UCSCCadherin domain
Cadherinaa 279–381UCSCCadherin domain
Cadherinaa 394–485UCSCCadherin domain
Cadherinaa 498–595UCSCCadherin domain
CADH_Y-type_LIRaa 733–792UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 20

HGNC Alias Symbol

CDH7L3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031891.4
p.D600N
c.1798G>A
Surrounding Variants
1 paper
NM_031891.4
p.T591T
c.1773C>A
1 paper
NM_031891.4
p.T589K
c.1766C>A
2 papers
NM_031891.4
p.V615L
c.1843G>C
1 paper
NM_031891.4
p.L584L
c.1752G>C
1 paper
NM_031891.4
p.V583M
c.1747G>A
1 paper
NM_031891.4
p.R619fs
c.1855_1856fs
2 papers
NM_031891.4
p.R619Q
c.1856G>A
1 paper
NM_031891.4
p.G620G
c.1860C>T
1 paper
NM_031891.4
p.M642K
c.1925T>A
1 paper
NM_031891.4
p.E656*
c.1966G>T
1 paper
NM_031891.4
p.E668K
c.2002G>A
1 paper
NM_031891.4
p.G669G
c.2007C>A
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