Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.A864T

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
6 papers
NM_005334.3
p.A864T
c.2590G>A
Surrounding Variants
2 papers
NM_005334.3
p.A868A
c.2604C>T
1 paper
NM_005334.3
p.T871R
c.2612C>G
1 paper
NM_005334.3
p.G852_R855del4
c.2554_2564del12
2 papers
NM_005334.3
p.R855L
c.2564G>T
3 papers
NM_005334.3
p.R855C
c.2563C>T
10 papers
NM_005334.3
p.G876S
c.2626G>A
1 paper
NM_005334.3
p.R847L
c.2540G>T
1 paper
NM_005334.3
p.G843D
c.2528G>A
1 paper
NM_005334.3
p.G840*
c.2518G>T
1 paper
NM_005334.3
p.T831I
c.2492C>T
1 paper
NM_005334.3
p.T882A
c.2644A>G
1 paper
NM_005334.3
p.V890I
c.2668G>A
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