Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.P1575L

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.P1575L
c.4724C>T
Surrounding Variants
1 paper
NM_005334.3
p.P1574A
c.4720C>G
1 paper
NM_005334.3
p.L1587F
c.4759C>T
1 paper
NM_005334.3
p.M1603V
c.4807A>G
1 paper
NM_005334.3
p.A1634T
c.4900G>A
1 paper
NM_005334.3
p.A1642A
c.4926G>A
1 paper
NM_005334.3
p.P1499_P1500Splc
c.4498-106C>G
1 paper
NM_005334.3
p.E1657K
c.4969G>A
2 papers
NM_005334.3
p.P1683R
c.5048C>G
1 paper
NM_005334.3
p.E1690K
c.5068G>A
1 paper
NM_005334.3
p.A1693T
c.5077G>A
1 paper
NM_005334.3
p.L1700ins2
c.5098_5099ins6
1 paper
NM_005334.3
p.P1719L
c.5156C>T
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