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.Q89_Q90del1

c.266_268delGCT

Surrounding Variants

1 paper

NM_020805.3

p.Q89_Q90del2

c.265_269del6

1 paper

NM_020805.3

p.Q90_P92delFs

c.269_275del7

2 papers

NM_020805.3

p.P92S

c.274C>T

1 paper

NM_020805.3

p.Q91*

c.271C>T

1 paper

NM_020805.3

p.Q94*

c.280C>T

2 papers

NM_020805.3

p.Q90*

c.268C>T

1 paper

NM_020805.3

p.Q95H

c.285G>T

1 paper

NM_020805.3

p.Q95H

c.285G>C

1 paper

NM_020805.3

p.P88L

c.263C>T

3 papers

NM_020805.3

p.Q97*

c.289C>T

1 paper

NM_020805.3

p.P87T

c.259C>A

1 paper

NM_020805.3

p.S93_P98ins2

c.277_294dup18