Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC10
Variant:p.M360I

KLHDC10

43 papers

Pfam Domains

Kelch_1aa 91–147UCSCKelch motif
Kelch_1aa 206–251UCSCKelch motif
Kelch_1aa 259–306UCSCKelch motif
Kelch_1aa 315–360UCSCKelch motif

Gene Aliases

HGNC Name

kelch domain containing 10

HGNC Alias Symbols

KIAA0265; slim

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014997.4
p.M360I
c.1080G>C
Surrounding Variants
1 paper
NM_014997.4
p.M360I
c.1080G>A
1 paper
NM_014997.4
p.M360I
c.1080G>T
1 paper
NM_014997.4
p.A369S
c.1105G>T
1 paper
NM_014997.4
p.P403_S404insFs
c.1209_1210insT
1 paper
NM_014997.4
p.L408L
c.1222C>T
1 paper
NM_014997.4
p.K412K
c.1236G>A
1 paper
NM_014997.4
p.A421G
c.1262C>G
4 papers
NM_014997.4
p.R316*
c.946C>T
1 paper
NM_014997.4
p.A303V
c.908C>T
1 paper
NM_014997.4
p.E300fs
c.898_899fs
1 paper
NM_014997.4
p.E300_I302delFs
c.898_905del8
1 paper
NM_014997.4
p.A291T
c.871G>A
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