Varaico: Literature-Extracted Genetic Variants

Gene:MDFI
Variant:p.S138_Q139del1

MDFI

15 papers

RefSeq Summary

This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nu...

Pfam Domains

MDFIaa 25–185UCSCMyoD family inhibitor
MDFIaa 66–246UCSCMyoD family inhibitor

Gene Aliases

HGNC Name

MyoD family inhibitor

HGNC Alias Symbol

I-mfa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005586.4
p.S138_Q139del1
c.414_416delCCA
Surrounding Variants
2 papers
NM_005586.4
p.S138_Q139del2
c.412_416del6
1 paper
NM_005586.4
p.L157R
c.470T>G
1 paper
NM_005586.4
p.A116T
c.346G>A
1 paper
NM_005586.4
p.D79N
c.235G>A
3 papers
NM_005586.4
p.P67delFs
c.199_200delCC
1 paper
NM_005586.4
p.G66S
c.196G>A
1 paper
NM_005586.4
p.M61T
c.182T>C
1 paper
NM_005586.4
p.M61L
c.181A>C
1 paper
NM_005586.4
p.M61L
c.181A>T
2 papers
NM_005586.4
p.E46_A47delFs
c.138_139delGG
3 papers
NM_005586.4
p.L199_C200del2
c.595_599del6
4 papers
NM_005586.4
p.L199_C200del1
c.597_599delCTG
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