Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.P1719L

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.P1719L
c.5156C>T
Surrounding Variants
1 paper
NM_005334.3
p.A1737P
c.5209G>C
1 paper
NM_005334.3
p.L1700ins2
c.5098_5099ins6
1 paper
NM_005334.3
p.A1693T
c.5077G>A
1 paper
NM_005334.3
p.E1690K
c.5068G>A
2 papers
NM_005334.3
p.P1683R
c.5048C>G
1 paper
NM_005334.3
p.E1657K
c.4969G>A
1 paper
NM_005334.3
p.S1754Splc
c.5261-4C>T
8 papers
NM_005334.3
p.A1756V
c.5267C>T
1 paper
NM_005334.3
p.P1764L
c.5291C>T
1 paper
NM_005334.3
p.P1766S
c.5296C>T
2 papers
NM_005334.3
p.V1769M
c.5305G>A
1 paper
NM_005334.3
p.A1773V
c.5318C>T
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