Varaico: Literature-Extracted Genetic Variants

Gene:KLHL23

KLHL23

22 papers

Pfam Domains

BTBaa 26–134UCSCBTB/POZ domain
BACKaa 139–240UCSCBTB And C-terminal Kelch
Kelch_KLHDC2_KLHL20_DRC7aa 267–473UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch like family member 23

HGNC Alias Symbols

MGC2610; FLJ37812; MGC22679

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
2 papers
NM_144711.6
p.S268F
c.803C>T
1 paper
NM_144711.6
p.P19insFs
c.55_56insA
1 paper
NM_144711.6
p.P19insFs
c.55_56insAA
1 paper
NM_144711.6
p.L55_A56insA
c.163_167ins3
1 paper
NM_144711.6
p.L55_A56insAA
c.163_167ins6
1 paper
NM_144711.6
p.M70Fs
c.208delinsTACACACATFs
1 paper
NM_144711.6
p.I83insFs
c.247_248insTC
1 paper
NM_144711.6
p.D86insFs
c.256_257ins4
1 paper
NM_144711.6
p.C126S
c.376T>A
1 paper
NM_144711.6
p.C126S
c.377G>C
1 paper
NM_144711.6
p.K182E
c.544A>G
1 paper
NM_144711.6
p.I205T
c.614T>C
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