Varaico: Literature-Extracted Genetic Variants

Gene:KLHL10
Variant:p.H13insFs

KLHL10

76 papers

RefSeq Summary

The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to f...

Pfam Domains

BTBaa 29–136UCSCBTB/POZ domain
BACKaa 141–244UCSCBTB And C-terminal Kelch
Kelch_1aa 292–323UCSCKelch motif
Kelch_1aa 328–373UCSCKelch motif
Kelch_1aa 375–420UCSCKelch motif
Kelch_1aa 422–467UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 10

HGNC Alias Symbol

FLJ32662

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152467.5
p.H13insFs
c.37_38insT
Surrounding Variants
1 paper
NM_152467.5
p.H13L
c.38A>T
1 paper
NM_152467.5
p.A7insFs
c.20dupC
1 paper
NM_152467.5
p.E2K
c.4G>A
1 paper
NM_152467.5
p.M1I
c.3G>A
1 paper
NM_152467.5
p.M1I
c.3G>C
1 paper
NM_152467.5
p.M1I
c.3G>T
1 paper
NM_152467.5
p.M1R
c.2T>G
1 paper
NM_152467.5
p.C26W
c.78T>G
1 paper
NM_152467.5
p.N30N
c.90C>T
1 paper
NM_152467.5
p.C39Y
c.116G>A
1 paper
NM_152467.5
p.E49Q
c.145G>C
1 paper
NM_152467.5
p.C60G
c.178T>G
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