Varaico: Literature-Extracted Genetic Variants

Gene:CDH7
Variant:p.Q757H

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.Q757H
c.2271G>C
Surrounding Variants
1 paper
NM_004361.5
p.Q757H
c.2271G>T
1 paper
NM_004361.5
p.S755F
c.2264C>T
1 paper
NM_004361.5
p.R768C
c.2302C>T
2 papers
NM_004361.5
p.R771*
c.2311C>T
1 paper
NM_004361.5
p.G777E
c.2330G>A
1 paper
NM_004361.5
p.Q731R
c.2192A>G
1 paper
NM_004361.5
p.P726A
c.2176C>G
1 paper
NM_004361.5
p.I706S
c.2117T>G
1 paper
NM_004361.5
p.Q691*
c.2071C>T
1 paper
NM_004361.5
p.V686M
c.2056G>A
1 paper
NM_004361.5
p.D685Y
c.2053G>T
1 paper
NM_004361.5
p.L674P
c.2021T>C
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."