Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8C
Variant:p.K499*

LRRC8C

71 papers

Pfam Domains

Pannexin_likeaa 1–338UCSCPannexin-like TM region of LRRC8
LRR_8aa 589–649UCSCLeucine rich repeat
LRR_8aa 637–695UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 8 VRAC subunit C

HGNC Alias Symbol

AD158

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032270.5
p.K499*
c.1495A>T
Surrounding Variants
1 paper
NM_032270.5
p.M503I
c.1509G>A
1 paper
NM_032270.5
p.M503I
c.1509G>C
1 paper
NM_032270.5
p.M503I
c.1509G>T
1 paper
NM_032270.5
p.L506insFs
c.1516dupC
1 paper
NM_032270.5
p.P508delFs
c.1523delC
1 paper
NM_032270.5
p.P508fs
c.1522_1523fs
1 paper
NM_032270.5
p.P508H
c.1523C>A
1 paper
NM_032270.5
p.A484V
c.1451C>T
1 paper
NM_032270.5
p.G523D
c.1568G>A
1 paper
NM_032270.5
p.G523_S524delFs
c.1569_1572del4
1 paper
NM_032270.5
p.Q470*
c.1408C>T
5 papers
NM_032270.5
p.N468S
c.1403A>G
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