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

1–12 of 1177 variants

56 papers

NM_203500.2

p.G333C

c.997G>T

48 papers

NM_203500.2

p.R470C

c.1408C>T

20 papers

NM_203500.2

p.C151S

c.452G>C

20 papers

NM_203500.2

p.G480W

c.1438G>T

19 papers

NM_203500.2

p.C151S

c.451T>A

19 papers

NM_203500.2

p.V155F

c.463G>T

19 papers

NM_203500.2

p.R320Q

c.959G>A

19 papers

NM_203500.2

p.D422N

c.1264G>A

18 papers

NM_203500.2

p.R554Q

c.1661G>A

17 papers

NM_203500.2

p.D236H

c.706G>C

17 papers

NM_203500.2

p.G364C

c.1090G>T

16 papers

NM_203500.2

p.V122L

c.364G>C