Varaico: Literature-Extracted Genetic Variants

Gene:HRNR
Variant:p.S1748L

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
2 papers
NM_001009931.3
p.S1748L
c.5243C>T
Surrounding Variants
8 papers
NM_001009931.3
p.V1753A
c.5258T>C
1 paper
NM_001009931.3
p.R1741H
c.5222G>A
1 paper
NM_001009931.3
p.S1740N
c.5219G>A
1 paper
NM_001009931.3
p.R1737H
c.5210G>A
3 papers
NM_001009931.3
p.G1729S
c.5185G>A
1 paper
NM_001009931.3
p.S1768G
c.5302A>G
3 papers
NM_001009931.3
p.L1722S
c.5165T>C
2 papers
NM_001009931.3
p.S1779N
c.5336G>A
1 paper
NM_001009931.3
p.G1716S
c.5146G>A
7 papers
NM_001009931.3
p.R1715H
c.5144G>A
5 papers
NM_001009931.3
p.S1714N
c.5141G>A
1 paper
NM_001009931.3
p.Q1711E
c.5131C>G
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