Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.E68K

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
5 papers
NM_005926.3
p.E68K
c.202G>A
Surrounding Variants
1 paper
NM_005926.3
p.K64_K67del4
c.190_200del12
2 papers
NM_005926.3
p.E68A
c.203A>C
2 papers
NM_005926.3
p.K67E
c.199A>G
2 papers
NM_005926.3
p.K67Q
c.199A>C
1 paper
NM_005926.3
p.Q69L
c.206A>T
1 paper
NM_005926.3
p.Q61_K65delFs
c.182_194del13
9 papers
NM_005926.3
p.E70*
c.208G>T
1 paper
NM_005926.3
p.A66S
c.196G>T
1 paper
NM_005926.3
p.E70Q
c.208G>C
1 paper
NM_005926.3
p.A66P
c.196G>C
3 papers
NM_005926.3
p.E70K
c.208G>A
2 papers
NM_005926.3
p.A66T
c.196G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."