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

1–12 of 67 variants

10 papers

NM_152467.5

p.A313T

c.937G>A

9 papers

NM_152467.5

p.Q216P

c.647A>C

6 papers

NM_152467.5

p.T105S

c.313A>T

5 papers

NM_152467.5

p.N81I

c.242A>T

5 papers

NM_152467.5

p.V203I

c.607G>A

5 papers

NM_152467.5

p.I296T

c.887T>C

3 papers

NM_152467.5

p.R329C

c.985C>T

2 papers

NM_152467.5

p.C145R

c.433T>C

2 papers

NM_152467.5

p.I510V

c.1528A>G

2 papers

NM_152467.5

p.R517C

c.1549C>T

2 papers

NM_152467.5

p.R585Q

c.1754G>A

1 paper

NM_152467.5

p.M1R

c.2T>G