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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAVS

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

Gene Aliases

HGNC Name

mitochondrial antiviral signaling protein

HGNC Alias Symbols

VISA; KIAA1271; IPS-1; Cardif

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 173 variants

9 papers

chr20:3857794 C>G

NM_020746.5

p.Q93E

c.277C>G

Exome: 26.5% (AC=387488, hom=54506)Genome: 22.9% (AC=34924, hom=4812)18 overlapping SVs

9 papers

chr20:3862380 C>A

NM_020746.5

p.Q198K

c.592C>A

CARD_2

Exome: 15.3% (AC=223649, hom=17851)Genome: 15.8% (AC=24060, hom=1973)10 overlapping SVs

9 papers

chr20:3865750 C>T

NM_020746.5

p.S409F

c.1226C>T

Exome: 15.8% (AC=230872, hom=19832)Genome: 21.0% (AC=31981, hom=4161)11 overlapping SVs

8 papers

chr20:3857753 G>T

NM_020746.5

p.C79F

c.236G>T

CARD_2

Exome: 0.4% (AC=5685, hom=305)Genome: 3.6% (AC=5549, hom=325)18 overlapping SVs

6 papers

chr20:3864282 C>T

NM_020746.5

p.R218C

c.652C>T

CARD_2

Exome: 13.6% (AC=198980, hom=14997)Genome: 10.5% (AC=15996, hom=1105)10 overlapping SVs

5 papers

chr20:3854701 A>C

NM_020746.5

p.E26A

c.77A>C

CARD_2

exact variant not in gnomAD17 overlapping SVs

3 papers

chr20:3857683 T>A

NM_020746.5

p.W56R

c.166T>A

CARD_2

exact variant not in gnomAD18 overlapping SVs

3 papers

chr20:3857683 T>C

NM_020746.5

p.W56R

c.166T>C

CARD_2

exact variant not in gnomAD18 overlapping SVs

3 papers

chr20:3857752 T>A

NM_020746.5

p.C79S

c.235T>A

CARD_2

Exome: 0.4% (AC=5685, hom=305)Genome: 3.6% (AC=5549, hom=325)18 overlapping SVs

3 papers

chr20:3857753 G>C

NM_020746.5

p.C79S

c.236G>C

CARD_2

exact variant not in gnomAD18 overlapping SVs

3 papers

chr20:3861504 G>C

NM_020746.5

p.E155D

c.465G>C

CARD_2

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

3 papers

chr20:3861504 G>T

NM_020746.5

p.E155D

c.465G>T

CARD_2

exact variant not in gnomAD11 overlapping SVs

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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."