Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.T991S

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.T991S
c.2971A>T
Surrounding Variants
1 paper
NM_005334.3
p.T991S
c.2972C>G
1 paper
NM_005334.3
p.A992T
c.2974G>A
1 paper
NM_005334.3
p.P990S
c.2968C>T
1 paper
NM_005334.3
p.E988K
c.2962G>A
1 paper
NM_005334.3
p.S984A
c.2950T>G
1 paper
NM_005334.3
p.S980F
c.2939C>T
1 paper
NM_005334.3
p.D976A
c.2927A>C
1 paper
NM_005334.3
p.P966insFs
c.2896_2897insAG
1 paper
NM_005334.3
p.E1019Q
c.3055G>C
2 papers
NM_005334.3
p.T958A
c.2872A>G
3 papers
NM_005334.3
p.V954M
c.2860G>A
1 paper
NM_005334.3
p.P953T
c.2857C>A
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