Varaico: Literature-Extracted Genetic Variants

Gene:MAVS
Variant:p.S249P

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.S249P
c.745T>C
Surrounding Variants
1 paper
NM_020746.5
p.G251S
c.751G>A
1 paper
NM_020746.5
p.F254L
c.760T>C
1 paper
NM_020746.5
p.F254L
c.762C>A
1 paper
NM_020746.5
p.F254L
c.762C>G
1 paper
NM_020746.5
p.G242V
c.725G>T
1 paper
NM_020746.5
p.R239C
c.715C>T
1 paper
NM_020746.5
p.G260G
c.780C>T
1 paper
NM_020746.5
p.A262A
c.786C>T
2 papers
NM_020746.5
p.R232H
c.695G>A
1 paper
NM_020746.5
p.L230L
c.688C>T
2 papers
NM_020746.5
p.K270R
c.809A>G
1 paper
NM_020746.5
p.Q271fs
c.811_812fs
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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."