Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.D729_G730insTT

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
3 papers
NM_005334.3
p.D729_G730insTT
c.2185_2189ins6
Surrounding Variants
1 paper
NM_005334.3
p.A728_D729insFs
c.2184_2185insA
2 papers
NM_005334.3
p.A728delFs
c.2184delT
1 paper
NM_005334.3
p.I721V
c.2161A>G
1 paper
NM_005334.3
p.T738I
c.2213C>T
1 paper
NM_005334.3
p.A718P
c.2152G>C
1 paper
NM_005334.3
p.T761T
c.2283C>G
1 paper
NM_005334.3
p.I769_K770insFs
c.2307_2308insA
3 papers
NM_005334.3
p.S775L
c.2324C>T
1 paper
NM_005334.3
p.G782G
c.2346C>T
1 paper
NM_005334.3
p.V706_I710delins
c.2117_2130delinsAGAAA
1 paper
NM_005334.3
p.K682R
c.2045A>G
1 paper
NM_005334.3
p.P795fs
c.2383_2384fs
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