Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.N1303K

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
17 papers
NM_005334.3
p.N1303K
c.3909C>G
Surrounding Variants
16 papers
NM_005334.3
p.N1303K
c.3909C>A
1 paper
NM_005334.3
p.Q1314*
c.3940C>T
1 paper
NM_005334.3
p.P1292delFs
c.3876delT
1 paper
NM_005334.3
p.S1318A
c.3952T>G
2 papers
NM_005334.3
p.S1282L
c.3845C>T
1 paper
NM_005334.3
p.T1327M
c.3980C>T
1 paper
NM_005334.3
p.T1332M
c.3995C>T
1 paper
NM_005334.3
p.A1333T
c.3997G>A
1 paper
NM_005334.3
p.V1270M
c.3808G>A
1 paper
NM_005334.3
p.G1340_G1341del1
c.4020_4022delCCC
2 papers
NM_005334.3
p.S1265L
c.3794C>T
1 paper
NM_005334.3
p.G1341del1
c.4021_4022delGCC
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