Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.L138L

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.L138L
c.414C>G
Surrounding Variants
1 paper
NM_005334.3
p.H140delFs
c.419delT
2 papers
NM_005334.3
p.P134P
c.402G>A
1 paper
NM_005334.3
p.F142L
c.426C>A
1 paper
NM_005334.3
p.P134L
c.401C>T
10 papers
NM_005334.3
p.P134S
c.400C>T
1 paper
NM_005334.3
p.L144delFs
c.430delG
2 papers
NM_005334.3
p.P132S
c.394C>T
1 paper
NM_005334.3
p.G146D
c.437G>A
1 paper
NM_005334.3
p.N130S
c.389A>G
1 paper
NM_005334.3
p.N147K
c.441C>G
1 paper
NM_005334.3
p.N147K
c.441C>A
1 paper
NM_005334.3
p.Y150delins
c.448_449delinsCC
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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."