Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.M2023I

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.M2023I
c.6069G>A
Surrounding Variants
1 paper
NM_005334.3
p.M2023I
c.6069G>T
1 paper
NM_005334.3
p.M2023I
c.6069G>C
1 paper
NM_005334.3
p.S2025Y
c.6074C>A
1 paper
NM_005334.3
p.A2032T
c.6094G>A
4 papers
NM_005334.3
p.R2016W
c.6046C>T
1 paper
NM_005334.3
p.W1999C
c.5997G>T
1 paper
NM_005334.3
p.W1999C
c.5997G>C
1 paper
NM_005334.3
p.G1990R
c.5968G>C
2 papers
NM_005334.3
p.R1982H
c.5945G>A
1 paper
NM_005334.3
p.R1950W
c.5848C>T
1 paper
NM_005334.3
p.Q1930E
c.5788C>G
1 paper
NM_005334.3
p.G1918S
c.5752G>A
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