Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.A73V

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
7 papers
NM_005334.3
p.A73V
c.218C>T
Surrounding Variants
6 papers
NM_005334.3
p.A73T
c.217G>A
1 paper
NM_005334.3
p.P72L
c.215C>T
1 paper
NM_005334.3
p.G76V
c.227G>T
1 paper
NM_005334.3
p.D77N
c.229G>A
3 papers
NM_005334.3
p.Q68E
c.202C>G
1 paper
NM_005334.3
p.C82insFs
c.244_245ins4
1 paper
NM_005334.3
p.Y85C
c.254A>G
1 paper
NM_005334.3
p.V88L
c.262G>T
1 paper
NM_005334.3
p.V88L
c.262G>C
1 paper
NM_005334.3
p.V88G
c.263T>G
1 paper
NM_005334.3
p.D90D
c.270C>T
1 paper
NM_005334.3
p.D90_G91insFs
c.270_271insA
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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."