Varaico: Literature-Extracted Genetic Variants

Gene:KLHL31
Variant:p.A508T

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.A508T
c.1522G>A
Surrounding Variants
1 paper
NM_001003760.5
p.R514T
c.1541G>C
1 paper
NM_001003760.5
p.E495K
c.1483G>A
1 paper
NM_001003760.5
p.T534I
c.1601C>T
1 paper
NM_001003760.5
p.C537G
c.1609T>G
1 paper
NM_001003760.5
p.A478S
c.1432G>T
1 paper
NM_001003760.5
p.I475I
c.1425A>C
1 paper
NM_001003760.5
p.W545C
c.1635G>T
1 paper
NM_001003760.5
p.W545C
c.1635G>C
1 paper
NM_001003760.5
p.A549E
c.1646C>A
1 paper
NM_001003760.5
p.R566C
c.1696C>T
1 paper
NM_001003760.5
p.E577K
c.1729G>A
1 paper
NM_001003760.5
p.S588C
c.1762A>T
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