Varaico: Literature-Extracted Genetic Variants

Gene:CDH7
Variant:p.L674P

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.L674P
c.2021T>C
Surrounding Variants
1 paper
NM_004361.5
p.F666insFs
c.1996_1997ins7
1 paper
NM_004361.5
p.F666insFs
c.1996_1997ins11
1 paper
NM_004361.5
p.F666fs
c.1996_1997fs
1 paper
NM_004361.5
p.A665V
c.1994C>T
1 paper
NM_004361.5
p.D685Y
c.2053G>T
2 papers
NM_004361.5
p.T663M
c.1988C>T
1 paper
NM_004361.5
p.V686M
c.2056G>A
1 paper
NM_004361.5
p.E661D
c.1983G>C
1 paper
NM_004361.5
p.E661D
c.1983G>T
2 papers
NM_004361.5
p.G658R
c.1972G>A
2 papers
NM_004361.5
p.G658R
c.1972G>C
1 paper
NM_004361.5
p.G658W
c.1972G>T
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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."