Varaico: Literature-Extracted Genetic Variants

IFIH1

738 papers

RefSeq Summary

IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified...

Pfam Domains

CARD_2aa 7–99UCSCCaspase recruitment domain

CARDaa 115–200UCSCCaspase recruitment domain

ResIIIaa 305–493UCSCType III restriction enzyme, res subunit

RIG-I_Caa 536–692UCSCRIG-I receptor C-terminal domain

Helicase_Caa 699–826UCSCHelicase conserved C-terminal domain

RIG-I_C-RDaa 903–1018UCSCC-terminal domain of RIG-I

Gene Aliases

HGNC Name

interferon induced with helicase C domain 1

HGNC Alias Symbols

MDA-5; Hlcd; MDA5; IDDM19

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022168.4

p.L906F

c.2716C>T

Surrounding Variants

2 papers

NM_022168.4

p.C910*

c.2730C>A

1 paper

NM_022168.4

p.Y896*

c.2688C>G

1 paper

NM_022168.4

p.Y896*

c.2688C>A

1 paper

NM_022168.4

p.A893_K894del2

c.2677_2681del6

1 paper

NM_022168.4

p.I920T

c.2759T>C

5 papers

NM_022168.4

p.K889*

c.2665A>T

53 papers

NM_022168.4

p.I923V

c.2767A>G

1 paper

NM_022168.4

p.I923L

c.2767A>C

1 paper

NM_022168.4

p.I923T

c.2768T>C

2 papers

NM_022168.4

p.M886T

c.2657T>C

1 paper

NM_022168.4

p.K884E

c.2650A>G

1 paper

NM_022168.4

p.E883insFs

c.2647_2648dupGA