Varaico: Literature-Extracted Genetic Variants

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

6 papers

NM_152467.5

p.T105S

c.313A>T

Surrounding Variants

1 paper

NM_152467.5

p.P106T

c.316C>A

1 paper

NM_001329596.2

p.P18L

c.53C>T

1 paper

NM_152467.5

p.V102M

c.304G>A

1 paper

NM_152467.5

p.Y96C

c.287A>G

1 paper

NM_152467.5

p.P87P

c.261C>T

1 paper

NM_152467.5

p.I124N

c.371T>A

1 paper

NM_152467.5

p.G84D

c.251G>A

5 papers

NM_152467.5

p.N81I

c.242A>T

1 paper

NM_152467.5

p.C129C

c.387C>T

1 paper

NM_152467.5

p.T75_Y80insFs

c.224_240dup17

1 paper

NM_152467.5

p.A66D

c.197C>A

2 papers

NM_152467.5

p.C145R

c.433T>C