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

1 paper

NM_152467.5

p.Y378fs

c.1132_1133fs

Surrounding Variants

1 paper

NM_152467.5

p.R376L

c.1127G>T

1 paper

NM_152467.5

p.V369delFs

c.1105delG

1 paper

NM_152467.5

p.A403A

c.1209T>A

1 paper

NM_152467.5

p.F347fs

c.1039_1040fs

1 paper

NM_152467.5

p.E409G

c.1226A>G

1 paper

NM_152467.5

p.G346insFs

c.1038dupG

1 paper

NM_152467.5

p.G339C

c.1015G>T

1 paper

NM_152467.5

p.L337L

c.1009T>C

1 paper

NM_152467.5

p.A334V

c.1001C>T

1 paper

NM_001329596.2

p.A338T

c.1012G>A

3 papers

NM_152467.5

p.R329C

c.985C>T

1 paper

NM_152467.5

p.E324D

c.972G>C