Varaico: Literature-Extracted Genetic Variants

KEAP1

869 papers

RefSeq Summary

This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the ...

Pfam Domains

BTBaa 67–179UCSCBTB/POZ domain

BACKaa 184–286UCSCBTB And C-terminal Kelch

Kelch_1aa 317–359UCSCKelch motif

Kelch_1aa 361–410UCSCKelch motif

Kelch_1aa 412–457UCSCKelch motif

Kelch_1aa 459–504UCSCKelch motif

Gene Aliases

HGNC Name

kelch like ECH associated protein 1

HGNC Alias Symbols

KIAA0132; MGC10630; MGC1114; MGC20887; MGC4407; MGC9454; INrf2; KLHL19

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_203500.2

p.Q82P

c.245A>C

Surrounding Variants

2 papers

NM_203500.2

p.Q82H

c.246G>T

2 papers

NM_203500.2

p.Q82H

c.246G>C

1 paper

NM_203500.2

p.V83F

c.247G>T

1 paper

NM_203500.2

p.L81Q

c.242T>A

2 papers

NM_203500.2

p.K84*

c.250A>T

1 paper

NM_203500.2

p.T80I

c.239C>T

1 paper

NM_203500.2

p.T80R

c.239C>G

4 papers

NM_203500.2

p.T80K

c.239C>A

2 papers

NM_203500.2

p.K84R

c.251A>G

3 papers

NM_203500.2

p.T80A

c.238A>G

1 paper

NM_203500.2

p.V79V

c.237C>T

1 paper

NM_203500.2

p.Y85fs

c.253_254fs