Varaico: Literature-Extracted Genetic Variants

Gene:HRNR
Variant:p.N49K

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.N49K
c.147C>G
Surrounding Variants
1 paper
NM_001009931.3
p.N49K
c.147C>A
1 paper
NM_001009931.3
p.D50N
c.148G>A
1 paper
NM_001009931.3
p.R63*
c.187C>T
1 paper
NM_001009931.3
p.V69A
c.206T>C
5 papers
NM_001009931.3
p.R85H
c.254G>A
1 paper
NM_001009931.3
p.D92V
c.275A>T
1 paper
NM_001009931.3
p.Q95H
c.285A>T
1 paper
NM_001009931.3
p.Q95H
c.285A>C
1 paper
NM_001009931.3
p.D103H
c.307G>C
2 papers
NM_001009931.3
p.Q109K
c.325C>A
1 paper
NM_001009931.3
p.E111K
c.331G>A
1 paper
NM_001009931.3
p.Q112P
c.335A>C
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