Varaico: Literature-Extracted Genetic Variants

Gene:MAVS
Variant:p.K270R

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
2 papers
NM_020746.5
p.K270R
c.809A>G
Surrounding Variants
1 paper
NM_020746.5
p.Q271fs
c.811_812fs
1 paper
NM_020746.5
p.Q271*
c.811C>T
1 paper
NM_020746.5
p.Q271delFs
c.812_813delAG
1 paper
NM_020746.5
p.A262A
c.786C>T
1 paper
NM_020746.5
p.E279K
c.835G>A
1 paper
NM_020746.5
p.G260G
c.780C>T
1 paper
NM_020746.5
p.C283Y
c.848G>A
1 paper
NM_020746.5
p.S284A
c.850T>G
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.F254L
c.760T>C
1 paper
NM_020746.5
p.G251S
c.751G>A
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