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.R560*

c.1678C>T

Surrounding Variants

1 paper

NM_020805.3

p.R560P

c.1679G>C

1 paper

NM_020805.3

p.Q553P

c.1658A>C

1 paper

NM_020805.3

p.Y542H

c.1624T>C

2 papers

NM_020805.3

p.L534F

c.1600C>T

1 paper

NM_020805.3

p.H533Y

c.1597C>T

1 paper

NM_020805.3

p.Y592S

c.1775A>C

1 paper

NM_020805.3

p.G478D

c.1433G>A

1 paper

NM_020805.3

p.I473R

c.1418T>G

1 paper

NM_020805.3

p.A462V

c.1385C>T

1 paper

NM_020805.3

p.Y453H

c.1357T>C

4 papers

NM_020805.3

p.R452C

c.1354C>T

1 paper

NM_020805.3

p.T448M

c.1343C>T