Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.I220del1

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
2 papers
NM_005334.3
p.I220del1
c.658_660delGAT
Surrounding Variants
1 paper
NM_005334.3
p.G222G
c.666C>A
12 papers
NM_005334.3
p.S225N
c.674G>A
1 paper
NM_005334.3
p.E210A
c.629A>C
1 paper
NM_005334.3
p.E210*
c.628G>T
1 paper
NM_005334.3
p.W233*
c.698G>A
1 paper
NM_005334.3
p.T234I
c.701C>T
1 paper
NM_005334.3
p.D236fs
c.706_707fs
1 paper
NM_005334.3
p.A205A
c.615C>A
1 paper
NM_005334.3
p.H203Y
c.607C>T
1 paper
NM_005334.3
p.E201delFs
c.602delT
1 paper
NM_005334.3
p.E201K
c.601G>A
2 papers
NM_005334.3
p.R200Q
c.599G>A
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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."