Varaico: Literature-Extracted Genetic Variants

Gene:CDH7
Variant:p.D566Y

CDH7

101 papers

RefSeq Summary

This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteoly...

Pfam Domains

Cadherinaa 52–144UCSCCadherin domain
Cadherinaa 158–253UCSCCadherin domain
Cadherinaa 267–369UCSCCadherin domain
Cadherinaa 382–473UCSCCadherin domain
Cadherinaa 486–583UCSCCadherin domain
CADH_Y-type_LIRaa 718–777UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 7

HGNC Previous Name

cadherin 7, type 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004361.5
p.D566Y
c.1696G>T
Surrounding Variants
1 paper
NM_004361.5
p.P561T
c.1681C>A
1 paper
NM_004361.5
p.T575N
c.1724C>A
1 paper
NM_004361.5
p.S556L
c.1667C>T
3 papers
NM_004361.5
p.N576S
c.1727A>G
1 paper
NM_004361.5
p.E554D
c.1662A>C
1 paper
NM_004361.5
p.E554D
c.1662A>T
1 paper
NM_004361.5
p.R551W
c.1651C>T
1 paper
NM_004361.5
p.L544L
c.1632G>A
1 paper
NM_004361.5
p.D588H
c.1762G>C
2 papers
NM_004361.5
p.D588D
c.1764C>T
1 paper
NM_004361.5
p.C594fs
c.1780_1781fs
1 paper
NM_004361.5
p.E597K
c.1789G>A
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