Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.I576I

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.I576I
c.1728C>T
Surrounding Variants
1 paper
NM_005334.3
p.G573R
c.1717G>C
1 paper
NM_005334.3
p.G573S
c.1717G>A
1 paper
NM_005334.3
p.A581T
c.1741G>A
1 paper
NM_005334.3
p.P571S
c.1711C>T
1 paper
NM_005334.3
p.T566M
c.1697C>T
1 paper
NM_005334.3
p.T588P
c.1762A>C
1 paper
NM_005334.3
p.A596T
c.1786G>A
1 paper
NM_005334.3
p.S597A
c.1789T>G
1 paper
NM_005334.3
p.V593_A596del4
c.1777_1787del12
1 paper
NM_005334.3
p.A551T
c.1651G>A
1 paper
NM_005334.3
p.A550V
c.1649C>T
1 paper
NM_005334.3
p.A547V
c.1640C>T
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