Varaico: Literature-Extracted Genetic Variants

KLHL14

59 papers

RefSeq Summary

The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch do...

Pfam Domains

BTBaa 23–69UCSCBTB/POZ domain

BTBaa 113–181UCSCBTB/POZ domain

BACKaa 187–279UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 314–525UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_1aa 559–604UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 14

HGNC Alias Symbol

KIAA1384

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020805.3

p.M254I

c.762G>C

Surrounding Variants

2 papers

NM_020805.3

p.M254I

c.762G>T

2 papers

NM_020805.3

p.M254I

c.762G>A

2 papers

NM_020805.3

p.Q255*

c.763C>T

1 paper

NM_020805.3

p.Q255H

c.765G>T

1 paper

NM_020805.3

p.Q255H

c.765G>C

1 paper

NM_020805.3

p.Y256D

c.766T>G

1 paper

NM_020805.3

p.R253H

c.758G>A

1 paper

NM_020805.3

p.Y256F

c.767A>T

1 paper

NM_020805.3

p.Y256S

c.767A>C

1 paper

NM_020805.3

p.Y256fs

c.766_767fs

2 papers

NM_020805.3

p.L260F

c.778C>T

1 paper

NM_020805.3

p.D249N

c.745G>A