Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.G1341del1

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.G1341del1
c.4021_4022delGCC
Surrounding Variants
1 paper
NM_005334.3
p.G1340_G1341del1
c.4020_4022delCCC
1 paper
NM_005334.3
p.A1333T
c.3997G>A
1 paper
NM_005334.3
p.T1332M
c.3995C>T
1 paper
NM_005334.3
p.A1353S
c.4057G>T
1 paper
NM_005334.3
p.R1355H
c.4064G>A
1 paper
NM_005334.3
p.P1356P
c.4068C>T
1 paper
NM_005334.3
p.T1327M
c.3980C>T
1 paper
NM_005334.3
p.E1358_T1359del2
c.4072_4076del6
1 paper
NM_005334.3
p.T1362N
c.4085C>A
1 paper
NM_005334.3
p.T1365S
c.4093A>T
1 paper
NM_005334.3
p.T1365S
c.4094C>G
1 paper
NM_005334.3
p.S1318A
c.3952T>G
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