Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.T642I

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.T642I
c.1925C>T
Surrounding Variants
1 paper
NM_005334.3
p.H636Y
c.1906C>T
1 paper
NM_005334.3
p.I632V
c.1894A>G
2 papers
NM_005334.3
p.K659*
c.1975A>T
1 paper
NM_005334.3
p.A624T
c.1870G>A
2 papers
NM_005334.3
p.T658_T660del3
c.1972_1979del9
1 paper
NM_005334.3
p.A614V
c.1841C>T
1 paper
NM_005334.3
p.K611K
c.1833G>A
1 paper
NM_005334.3
p.R608H
c.1823G>A
1 paper
NM_005334.3
p.P605A
c.1813C>G
1 paper
NM_005334.3
p.K682R
c.2045A>G
1 paper
NM_005334.3
p.V706_I710delins
c.2117_2130delinsAGAAA
1 paper
NM_005334.3
p.S597A
c.1789T>G
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