Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.Q76Q

MFAP1

2,220 papers

Pfam Domains

MFAP1aa 189–399UCSCMicrofibril-associated/Pre-mRNA processing

Gene Aliases

HGNC Name

microfibril associated protein 1

HGNC Alias Symbol

AMP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005926.3
p.Q76Q
c.228G>A
Surrounding Variants
2 papers
NM_005926.3
p.Q76R
c.227A>G
1 paper
NM_005926.3
p.Q76K
c.226C>A
1 paper
NM_005926.3
p.Q76_E77delFs
c.228_229delCC
1 paper
NM_005926.3
p.E75D
c.225A>T
3 papers
NM_005926.3
p.E78K
c.232G>A
3 papers
NM_005926.3
p.E75A
c.224A>C
1 paper
NM_005926.3
p.E74_E75delFs
c.222_223delCC
1 paper
NM_005926.3
p.E75Q
c.223G>C
1 paper
NM_005926.3
p.E75K
c.223G>A
1 paper
NM_005926.3
p.E78V
c.233A>T
3 papers
NM_005926.3
p.E78G
c.233A>G
1 paper
NM_005926.3
p.E75fs
c.223_224fs
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