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.W245*

c.734G>A

Surrounding Variants

1 paper

NM_020805.3

p.W245G

c.733T>G

2 papers

NM_020805.3

p.W245C

c.735G>T

2 papers

NM_020805.3

p.W245C

c.735G>C

3 papers

NM_020805.3

p.W245*

c.735G>A

1 paper

NM_020805.3

p.V243L

c.727G>T

1 paper

NM_020805.3

p.V243L

c.727G>C

1 paper

NM_020805.3

p.D249N

c.745G>A

1 paper

NM_020805.3

p.S234_M241delFs

c.701_722del22

1 paper

NM_020805.3

p.L238H

c.713T>A

1 paper

NM_020805.3

p.R253H

c.758G>A

2 papers

NM_020805.3

p.M254I

c.762G>T

2 papers

NM_020805.3

p.M254I

c.762G>C