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

3 papers

NM_020805.3

p.Q188*

c.562C>T

Surrounding Variants

1 paper

NM_020805.3

p.Q188E

c.562C>G

2 papers

NM_020805.3

p.V189M

c.565G>A

1 paper

NM_020805.3

p.V189E

c.566T>A

1 paper

NM_020805.3

p.C190Y

c.569G>A

2 papers

NM_020805.3

p.N185K

c.555C>G

2 papers

NM_020805.3

p.N185K

c.555C>A

1 paper

NM_020805.3

p.N185D

c.553A>G

1 paper

NM_020805.3

p.Q180Q

c.540G>A

2 papers

NM_020805.3

p.H196Y

c.586C>T

1 paper

NM_020805.3

p.H196L

c.587A>T

1 paper

NM_020805.3

p.G197S

c.589G>A

1 paper

NM_020805.3

p.E199*

c.595G>T