Varaico: Literature-Extracted Genetic Variants

Gene:HRNR
Variant:p.Q175P

HRNR

313 papers

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

hornerin

HGNC Alias Symbols

S100a18; FLG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001009931.3
p.Q175P
c.524A>C
Surrounding Variants
1 paper
NM_001009931.3
p.Q175*
c.523C>T
1 paper
NM_001009931.3
p.Y172*
c.516C>G
1 paper
NM_001009931.3
p.Y172*
c.516C>A
1 paper
NM_001009931.3
p.Y172F
c.515A>T
1 paper
NM_001009931.3
p.G167D
c.500G>A
1 paper
NM_001009931.3
p.D185N
c.553G>A
1 paper
NM_001009931.3
p.S186fs
c.556_557fs
1 paper
NM_001009931.3
p.F161F
c.483T>C
1 paper
NM_001009931.3
p.R192C
c.574C>T
1 paper
NM_001009931.3
p.C195R
c.583T>C
1 paper
NM_001009931.3
p.G196E
c.587G>A
1 paper
NM_001009931.3
p.S199fs
c.595_596fs
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