Varaico: Literature-Extracted Genetic Variants

Gene:HRNR
Variant:p.Q1999L

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
8 papers
NM_001009931.3
p.Q1999L
c.5996A>T
Surrounding Variants
1 paper
NM_001009931.3
p.R1996_S1997delFs
c.5987_5990del4
6 papers
NM_001009931.3
p.R1996H
c.5987G>A
1 paper
NM_001009931.3
p.R1993*
c.5977C>T
1 paper
NM_001009931.3
p.G2007_S2008insCC
c.6019_6023ins6
1 paper
NM_001009931.3
p.G2007V
c.6020G>T
1 paper
NM_001009931.3
p.G1989S
c.5965G>A
1 paper
NM_001009931.3
p.G2011D
c.6032G>A
1 paper
NM_001009931.3
p.S2013F
c.6038C>T
1 paper
NM_001009931.3
p.T2015A
c.6043A>G
1 paper
NM_001009931.3
p.H2016N
c.6046C>A
1 paper
NM_001009931.3
p.Y1980Y
c.5940T>C
1 paper
NM_001009931.3
p.P1979T
c.5935C>A
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