Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.P180A

HCFC1

368 papers

RefSeq Summary

This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage sig...

Pfam Domains

Kelch_HCFaa 16–360UCSCHost cell factor, Kelch-repeats domain

Gene Aliases

HGNC Name

host cell factor C1

HGNC Previous Symbols

HFC1; MRX3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005334.3
p.P180A
c.538C>G
Surrounding Variants
1 paper
NM_005334.3
p.R179Q
c.536G>A
1 paper
NM_005334.3
p.V185_W187Fs
c.554_559delinsTGTGFs
1 paper
NM_005334.3
p.D172G
c.515A>G
1 paper
NM_005334.3
p.D172N
c.514G>A
4 papers
NM_005334.3
p.I189insFs
c.567dupT
1 paper
NM_005334.3
p.G194insFs
c.580_581ins40
1 paper
NM_005334.3
p.G194R
c.580G>A
1 paper
NM_005334.3
p.L196L
c.586C>T
1 paper
NM_005334.3
p.P197S
c.589C>T
1 paper
NM_005334.3
p.P198_P199delFs
c.593_596del4
2 papers
NM_005334.3
p.R200Q
c.599G>A
1 paper
NM_005334.3
p.E201K
c.601G>A
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