Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8B
Variant:p.D288N

LRRC8B

51 papers

Pfam Domains

Pannexin_likeaa 1–334UCSCPannexin-like TM region of LRRC8
LRR_5aa 561–652UCSCBspA type Leucine rich repeat region (6 copies)
LRR_8aa 656–714UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 8 VRAC subunit B

HGNC Alias Symbols

TA-LRRP; KIAA0231

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001369817.2
p.D288N
c.862G>A
Surrounding Variants
1 paper
NM_001369817.2
p.T297A
c.889A>G
1 paper
NM_001369817.2
p.Y278C
c.833A>G
1 paper
NM_001369817.2
p.P277P
c.831A>G
1 paper
NM_001369817.2
p.G298E
c.893G>A
1 paper
NM_001369817.2
p.V305A
c.914T>C
1 paper
NM_001369817.2
p.E310A
c.929A>C
1 paper
NM_001369817.2
p.V241L
c.721G>C
1 paper
NM_001369817.2
p.V241L
c.721G>T
1 paper
NM_001369817.2
p.F238S
c.713T>C
1 paper
NM_001369817.2
p.S223F
c.668C>T
1 paper
NM_001369817.2
p.K363E
c.1087A>G
1 paper
NM_001369817.2
p.K363T
c.1088A>C
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