Varaico: Literature-Extracted Genetic Variants

Gene:CDH7
Variant:p.G514E

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.G514E
c.1541G>A
Surrounding Variants
1 paper
NM_004361.5
p.N530S
c.1589A>G
1 paper
NM_004361.5
p.S532S
c.1596A>G
1 paper
NM_004361.5
p.K534E
c.1600A>G
1 paper
NM_004361.5
p.D535N
c.1603G>A
1 paper
NM_004361.5
p.E492D
c.1476A>C
1 paper
NM_004361.5
p.E492D
c.1476A>T
2 papers
NM_004361.5
p.C491G
c.1471T>G
1 paper
NM_004361.5
p.A479T
c.1435G>A
1 paper
NM_004361.5
p.D477Y
c.1429G>T
1 paper
NM_004361.5
p.N476S
c.1427A>G
1 paper
NM_004361.5
p.G464E
c.1391G>A
1 paper
NM_004361.5
p.I447V
c.1339A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."