Varaico: Literature-Extracted Genetic Variants

Gene:CASP7
Variant:p.D154N

CASP7

160 papers

RefSeq Summary

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as i...

Pfam Domains

Peptidase_C14aa 67–300UCSCCaspase domain
Peptidase_C14aa 67–300UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 7

HGNC Alias Symbols

MCH3; CMH-1; ICE-LAP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001227.5
p.D154N
c.460G>A
Surrounding Variants
1 paper
NM_001227.5
p.G155delins
c.464delinsTCCG
1 paper
NM_001267057.1
p.I225F
c.673A>T
1 paper
NM_001227.5
p.C171S
c.511T>A
1 paper
NM_001227.5
p.C171S
c.512G>C
1 paper
NM_001227.5
p.T132I
c.395C>T
1 paper
NM_001227.5
p.D130_H131del2
c.388_392del6
1 paper
NM_001227.5
p.E129K
c.385G>A
3 papers
NM_001227.5
p.E128_E129del2
c.382_386del6
3 papers
NM_001227.5
p.F181L
c.541T>C
1 paper
NM_001227.5
p.A126A
c.378T>A
3 papers
NM_001227.5
p.F181L
c.543C>A
3 papers
NM_001227.5
p.F181L
c.543C>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."