Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8B

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
1–12 of 51 variants
2 papers
NM_001369817.2
p.S567F
c.1700C>T
2 papers
NM_001369817.2
p.E782Q
c.2344G>C
1 paper
NM_001369817.2
p.E6A
c.17A>C
1 paper
NM_001369817.2
p.A13S
c.37G>T
1 paper
NM_001369817.2
p.V40M
c.118G>A
1 paper
NM_001369817.2
p.L41L
c.121C>T
1 paper
NM_001369817.2
p.G84E
c.251G>A
1 paper
NM_001369817.2
p.P86L
c.257C>T
1 paper
NM_001369817.2
p.L89V
c.265C>G
1 paper
NM_001369817.2
p.S147C
c.440C>G
1 paper
NM_001369817.2
p.S223F
c.668C>T
1 paper
NM_001369817.2
p.F238S
c.713T>C
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