Varaico: Literature-Extracted Genetic Variants

Gene:KLHL31
Variant:p.L211I

KLHL31

41 papers

Pfam Domains

BTBaa 63–167UCSCBTB/POZ domain
BACKaa 172–273UCSCBTB And C-terminal Kelch
Kelch_1aa 356–406UCSCKelch motif
Kelch_1aa 408–453UCSCKelch motif
Kelch_1aa 455–500UCSCKelch motif
Kelch_1aa 502–552UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 31

HGNC Alias Symbols

bA345L23.2; BKLHD6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001003760.5
p.L211I
c.631C>A
Surrounding Variants
1 paper
NM_001003760.5
p.M209I
c.627G>T
1 paper
NM_001003760.5
p.M209I
c.627G>C
1 paper
NM_001003760.5
p.M209I
c.627G>A
1 paper
NM_001003760.5
p.E218*
c.652G>T
1 paper
NM_001003760.5
p.I221R
c.662T>G
1 paper
NM_001003760.5
p.D222N
c.664G>A
1 paper
NM_001003760.5
p.D223A
c.668A>C
1 paper
NM_001003760.5
p.L184P
c.551T>C
1 paper
NM_001003760.5
p.M238T
c.713T>C
1 paper
NM_001003760.5
p.R247T
c.740G>C
1 paper
NM_001003760.5
p.A251T
c.751G>A
1 paper
NM_001003760.5
p.S168G
c.502A>G
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