Varaico: Literature-Extracted Genetic Variants

Gene:KLHL31

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
1–12 of 56 variants
3 papers
NM_001003760.5
p.V111M
c.331G>A
3 papers
NM_001003760.5
p.V156I
c.466G>A
2 papers
NM_001003760.5
p.F417L
c.1249T>C
2 papers
NM_001003760.5
p.F417L
c.1251C>G
2 papers
NM_001003760.5
p.F417L
c.1251C>A
1 paper
NM_001003760.5
p.P3S
c.7C>T
1 paper
NM_001003760.5
p.D24N
c.70G>A
1 paper
NM_001003760.5
p.S44N
c.131G>A
1 paper
NM_001003760.5
p.S47Y
c.140C>A
1 paper
NM_001003760.5
p.S54fs
c.160_161fs
1 paper
NM_001003760.5
p.Y55S
c.164A>C
1 paper
NM_001003760.5
p.D105H
c.313G>C
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