Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.V706_I710delins

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.V706_I710delins
c.2117_2130delinsAGAAA
Surrounding Variants
1 paper
NM_005334.3
p.K682R
c.2045A>G
1 paper
NM_005334.3
p.A718P
c.2152G>C
1 paper
NM_005334.3
p.I721V
c.2161A>G
2 papers
NM_005334.3
p.T658_T660del3
c.1972_1979del9
2 papers
NM_005334.3
p.K659*
c.1975A>T
3 papers
NM_005334.3
p.D729_G730insTT
c.2185_2189ins6
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.T738I
c.2213C>T
1 paper
NM_005334.3
p.T642I
c.1925C>T
1 paper
NM_005334.3
p.H636Y
c.1906C>T
1 paper
NM_005334.3
p.I632V
c.1894A>G
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