Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.S1245C

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.S1245C
c.3734C>G
Surrounding Variants
2 papers
NM_005334.3
p.R1244L
c.3731G>T
2 papers
NM_005334.3
p.R1253C
c.3757C>T
2 papers
NM_005334.3
p.H1235Q
c.3705T>G
1 paper
NM_005334.3
p.H1235Q
c.3705T>A
1 paper
NM_005334.3
p.H1233Q
c.3699C>A
1 paper
NM_005334.3
p.D1227E
c.3681C>G
1 paper
NM_005334.3
p.D1227E
c.3681C>A
1 paper
NM_005334.3
p.G1264S
c.3790G>A
2 papers
NM_005334.3
p.S1265L
c.3794C>T
1 paper
NM_005334.3
p.V1270M
c.3808G>A
1 paper
NM_005334.3
p.L1220P
c.3659T>C
2 papers
NM_005334.3
p.S1282L
c.3845C>T
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