Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8C
Variant:p.R173W

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.R173W
c.517C>T
Surrounding Variants
1 paper
NM_032270.5
p.T172S
c.514A>T
1 paper
NM_032270.5
p.P169S
c.505C>T
1 paper
NM_032270.5
p.D182delFs
c.544delG
1 paper
NM_032270.5
p.D182fs
c.544_545fs
2 papers
NM_032270.5
p.I159V
c.475A>G
1 paper
NM_032270.5
p.C141S
c.422G>C
1 paper
NM_032270.5
p.C141S
c.421T>A
9 papers
NM_032270.5
p.D205G
c.614A>G
1 paper
NM_032270.5
p.V208G
c.623T>G
1 paper
NM_032270.5
p.T135A
c.403A>G
1 paper
NM_032270.5
p.I133F
c.397A>T
1 paper
NM_032270.5
p.Y126F
c.377A>T
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