Varaico: Literature-Extracted Genetic Variants

Gene:MAVS
Variant:p.L31L

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.L31L
c.93G>A
Surrounding Variants
1 paper
NM_020746.5
p.Y30C
c.89A>G
2 papers
NM_020746.5
p.Y30F
c.89A>T
2 papers
NM_020746.5
p.Y30H
c.88T>C
1 paper
NM_020746.5
p.L28P
c.83T>C
1 paper
NM_020746.5
p.I27fs
c.79_80fs
5 papers
NM_020746.5
p.E26A
c.77A>C
2 papers
NM_020746.5
p.E26K
c.76G>A
1 paper
NM_020746.5
p.R37K
c.110G>A
1 paper
NM_020746.5
p.Q39*
c.115C>T
2 papers
NM_020746.5
p.D23A
c.68A>C
2 papers
NM_020746.5
p.D23N
c.67G>A
1 paper
NM_020746.5
p.N18K
c.54T>A
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