Varaico: Literature-Extracted Genetic Variants

Gene:MAVS
Variant:p.E135A

MAVS

227 papers

RefSeq Summary

This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta ...

Pfam Domains

CARD_2aa 5–92UCSCCaspase recruitment domain
CARD_2aa 5–92UCSCCaspase recruitment domain

Gene Aliases

HGNC Name

mitochondrial antiviral signaling protein

HGNC Alias Symbols

VISA; KIAA1271; IPS-1; Cardif

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020746.5
p.E135A
c.404A>C
Surrounding Variants
1 paper
NM_020746.5
p.K136R
c.407A>G
1 paper
NM_020746.5
p.P129H
c.386C>A
1 paper
NM_020746.5
p.P143S
c.427C>T
1 paper
NM_020746.5
p.E146K
c.436G>A
2 papers
NM_020746.5
p.A124V
c.371C>T
1 paper
NM_020746.5
p.A124S
c.370G>T
2 papers
NM_020746.5
p.T147S
c.439A>T
1 paper
NM_020746.5
p.A123A
c.369T>A
2 papers
NM_020746.5
p.T147S
c.440C>G
1 paper
NM_020746.5
p.T147I
c.440C>T
1 paper
NM_020746.5
p.P150A
c.448C>G
1 paper
NM_020746.5
p.E151V
c.452A>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."