Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8C
Variant:p.K304N

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
3 papers
NM_032270.5
p.K304N
c.912A>T
Surrounding Variants
3 papers
NM_032270.5
p.K304N
c.912A>C
1 paper
NM_032270.5
p.Q288L
c.863A>T
1 paper
NM_032270.5
p.S285F
c.854C>T
1 paper
NM_032270.5
p.W340*
c.1019G>A
1 paper
NM_032270.5
p.W340*
c.1020G>A
1 paper
NM_032270.5
p.F342V
c.1024T>G
1 paper
NM_032270.5
p.R344H
c.1031G>A
1 paper
NM_032270.5
p.A260V
c.779C>T
1 paper
NM_032270.5
p.Y353H
c.1057T>C
1 paper
NM_032270.5
p.E253D
c.759A>C
1 paper
NM_032270.5
p.E253D
c.759A>T
1 paper
NM_032270.5
p.Q379*
c.1135C>T
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