Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1

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
1–12 of 366 variants
17 papers
NM_005334.3
p.N1303K
c.3909C>G
16 papers
NM_005334.3
p.N1303K
c.3909C>A
13 papers
NM_005334.3
p.A115V
c.344C>T
12 papers
NM_005334.3
p.S225N
c.674G>A
10 papers
NM_005334.3
p.P134S
c.400C>T
10 papers
NM_005334.3
p.G876S
c.2626G>A
8 papers
NM_005334.3
p.A1756V
c.5267C>T
7 papers
NM_005334.3
p.A73V
c.218C>T
6 papers
NM_005334.3
p.A73T
c.217G>A
6 papers
NM_005334.3
p.A115T
c.343G>A
6 papers
NM_005334.3
p.A864T
c.2590G>A
5 papers
NM_005334.3
p.Y103H
c.307T>C
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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."