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.G79R

c.235G>C

Surrounding Variants

1 paper

NM_020805.3

p.G79R

c.235G>A

1 paper

NM_020805.3

p.G77D

c.230G>A

1 paper

NM_020805.3

p.P81R

c.242C>G

1 paper

NM_020805.3

p.P81H

c.242C>A

1 paper

NM_020805.3

p.D83G

c.248A>G

1 paper

NM_020805.3

p.G73D

c.218G>A

1 paper

NM_020805.3

p.P87T

c.259C>A

1 paper

NM_020805.3

p.P88L

c.263C>T

2 papers

NM_020805.3

p.Q90*

c.268C>T

1 paper

NM_020805.3

p.P67R

c.200C>G

1 paper

NM_020805.3

p.Q91*

c.271C>T

2 papers

NM_020805.3

p.P92S

c.274C>T