Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1R1
Variant:p.L100P

HCFC1R1

10 papers

Pfam Domains

HPIPaa 2–134UCSCHCF-1 beta-propeller-interacting protein family

Gene Aliases

HGNC Name

host cell factor C1 regulator 1

HGNC Alias Symbols

HPIP; FLJ20568

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017885.4
p.L100P
c.299T>C
Surrounding Variants
1 paper
NM_017885.4
p.L102L
c.306C>G
1 paper
NM_017885.4
p.W103*
c.308G>A
1 paper
NM_017885.4
p.W103*
c.309G>A
1 paper
NM_017885.4
p.R94Splc
c.282-1G>C
1 paper
NM_017885.4
p.P111H
c.332C>A
1 paper
NM_017885.4
p.E112A
c.335A>C
1 paper
NM_017885.4
p.Y127*
c.381C>G
1 paper
NM_017885.4
p.Y127*
c.381C>A
1 paper
NM_017885.4
p.M136T
c.407T>C
1 paper
NM_017885.4
p.E137G
c.410A>G
1 paper
NM_017885.4
p.P83fs
c.247_248fs
1 paper
NM_017885.4
p.Q51Splc
c.152+5G>T
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