Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8B
Variant:p.R469H

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.R469H
c.1406G>A
Surrounding Variants
1 paper
NM_001369817.2
p.S460L
c.1379C>T
1 paper
NM_001369817.2
p.R493C
c.1477C>T
1 paper
NM_001369817.2
p.V506I
c.1516G>A
1 paper
NM_001369817.2
p.C520R
c.1558T>C
1 paper
NM_001369817.2
p.N400K
c.1200C>A
1 paper
NM_001369817.2
p.N400K
c.1200C>G
1 paper
NM_001369817.2
p.N400S
c.1199A>G
1 paper
NM_001369817.2
p.K395R
c.1184A>G
1 paper
NM_001369817.2
p.L549F
c.1645C>T
1 paper
NM_001369817.2
p.Y380S
c.1139A>C
1 paper
NM_001369817.2
p.D374N
c.1120G>A
2 papers
NM_001369817.2
p.S567F
c.1700C>T
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