Varaico: Literature-Extracted Genetic Variants

Gene:KLHL23
Variant:p.S312R

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
Selected Variant
1 paper
NM_144711.6
p.S312R
c.934A>C
Surrounding Variants
1 paper
NM_144711.6
p.S312R
c.936C>A
1 paper
NM_144711.6
p.S312R
c.936C>G
1 paper
NM_144711.6
p.E311K
c.931G>A
1 paper
NM_144711.6
p.P354L
c.1061C>T
2 papers
NM_144711.6
p.S268F
c.803C>T
1 paper
NM_144711.6
p.R253H
c.758G>A
1 paper
NM_144711.6
p.I252T
c.755T>C
1 paper
NM_144711.6
p.Y372C
c.1115A>G
1 paper
NM_144711.6
p.L219P
c.656T>C
1 paper
NM_144711.6
p.R215Q
c.644G>A
1 paper
NM_144711.6
p.D211H
c.631G>C
1 paper
NM_144711.6
p.T208A
c.622A>G
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