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

1–12 of 157 variants

4 papers

NM_020805.3

p.R452C

c.1354C>T

3 papers

NM_020805.3

p.Q97*

c.289C>T

3 papers

NM_020805.3

p.Q188*

c.562C>T

3 papers

NM_020805.3

p.W245*

c.734G>A

3 papers

NM_020805.3

p.W245*

c.735G>A

2 papers

NM_020805.3

p.Q90*

c.268C>T

2 papers

NM_020805.3

p.P92S

c.274C>T

2 papers

NM_020805.3

p.C130Y

c.389G>A

2 papers

NM_020805.3

p.S161T

c.482G>C

2 papers

NM_020805.3

p.N185K

c.555C>G

2 papers

NM_020805.3

p.N185K

c.555C>A

2 papers

NM_020805.3

p.V189M

c.565G>A