Varaico: Literature-Extracted Genetic Variants

Gene:KLHL5
Variant:p.E165D

KLHL5

26 papers

Pfam Domains

BTBaa 118–210UCSCBTB/POZ domain
BTBaa 210–317UCSCBTB/POZ domain
BTBaa 210–317UCSCBTB/POZ domain
BACKaa 215–317UCSCBTB And C-terminal Kelch
BACKaa 322–424UCSCBTB And C-terminal Kelch
Beta-prop_ATRN-LZTR1aa 362–618UCSCAttractin/LZTR1 beta-propeller

Gene Aliases

HGNC Name

kelch like family member 5

HGNC Previous Names

kelch (Drosophila)-like 5; kelch-like 5 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015990.5
p.E165D
c.495A>C
Surrounding Variants
1 paper
NM_015990.5
p.E158K
c.472G>A
1 paper
NM_015990.5
p.I185V
c.553A>G
1 paper
NM_015990.5
p.E213_I215del0
c.639_644del6
1 paper
NM_001171654.1
p.G94V
c.281G>T
1 paper
NM_001171654.1
p.G94V
c.281G>T
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