Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.R1137W

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.R1137W
c.3409C>T
Surrounding Variants
4 papers
NM_005334.3
p.T1119I
c.3356C>T
1 paper
NM_005334.3
p.S1164P
c.3490T>C
1 paper
NM_005334.3
p.C1109C
c.3327C>T
1 paper
NM_005334.3
p.R1169P
c.3506G>C
1 paper
NM_005334.3
p.T1093_T1095del0
c.3277_3285del9
1 paper
NM_005334.3
p.S1188L
c.3563C>T
1 paper
NM_005334.3
p.S1188*
c.3563C>A
1 paper
NM_005334.3
p.E1084K
c.3250G>A
1 paper
NM_005334.3
p.E1081A
c.3242A>C
2 papers
NM_005334.3
p.R1199P
c.3596G>C
1 paper
NM_005334.3
p.S1070N
c.3209G>A
1 paper
NM_005334.3
p.G1069R
c.3205G>C
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