Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8B
Variant:p.T622fs

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.T622fs
c.1864_1865fs
Surrounding Variants
1 paper
NM_001369817.2
p.E625K
c.1873G>A
1 paper
NM_001369817.2
p.E625D
c.1875G>C
1 paper
NM_001369817.2
p.E625D
c.1875G>T
1 paper
NM_001369817.2
p.Q630*
c.1888C>T
1 paper
NM_001369817.2
p.L632F
c.1894C>T
1 paper
NM_001369817.2
p.R599C
c.1795C>T
1 paper
NM_001369817.2
p.Q660L
c.1979A>T
2 papers
NM_001369817.2
p.S567F
c.1700C>T
1 paper
NM_001369817.2
p.L686V
c.2056C>G
1 paper
NM_001369817.2
p.S687N
c.2060G>A
1 paper
NM_001369817.2
p.L549F
c.1645C>T
1 paper
NM_001369817.2
p.N712K
c.2136C>A
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