Varaico: Literature-Extracted Genetic Variants

Gene:FADD
Variant:p.D127A

FADD

146 papers

RefSeq Summary

The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be...

Pfam Domains

DEDaa 4–85UCSCDeath effector domain
Deathaa 98–181UCSCDeath domain

Gene Aliases

HGNC Name

Fas associated via death domain

HGNC Alias Symbols

MORT1; GIG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003824.4
p.D127A
c.380A>C
Surrounding Variants
1 paper
NM_003824.4
p.D127N
c.379G>A
1 paper
NM_003824.4
p.E130A
c.389A>C
2 papers
NM_003824.4
p.D131A
c.392A>C
1 paper
NM_003824.4
p.P134T
c.400C>A
6 papers
NM_003824.4
p.R117H
c.350G>A
1 paper
NM_003824.4
p.T138T
c.414A>T
1 paper
NM_003824.4
p.L115L
c.343C>T
1 paper
NM_003824.4
p.R114S
c.342G>C
1 paper
NM_003824.4
p.R114S
c.342G>T
2 papers
NM_003824.4
p.R140H
c.419G>A
2 papers
NM_003824.4
p.R142Q
c.425G>A
1 paper
NM_003824.4
p.E143*
c.427G>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."