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

1 paper

NM_020805.3

p.E140_Y141delFs

c.420_421delAC

Surrounding Variants

1 paper

NM_020805.3

p.Y141N

c.421T>A

1 paper

NM_020805.3

p.L139F

c.415C>T

1 paper

NM_020805.3

p.L139V

c.415C>G

1 paper

NM_020805.3

p.V147G

c.440T>G

1 paper

NM_020805.3

p.L149L

c.445C>T

2 papers

NM_020805.3

p.C130Y

c.389G>A

1 paper

NM_020805.3

p.T153M

c.458C>T

1 paper

NM_020805.3

p.V154G

c.461T>G

1 paper

NM_020805.3

p.Q128*

c.382C>T

1 paper

NM_020805.3

p.E156D

c.468G>T

1 paper

NM_020805.3

p.E156D

c.468G>C

1 paper

NM_020805.3

p.V126M

c.376G>A