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.L291fs

c.871_872fs

Surrounding Variants

1 paper

NM_203500.2

p.L291delFs

c.872delA

1 paper

NM_203500.2

p.S293A

c.877T>G

1 paper

NM_203500.2

p.E289K

c.865G>A

1 paper

NM_203500.2

p.C288delFs

c.864delG

1 paper

NM_203500.2

p.C288W

c.864C>G

2 papers

NM_203500.2

p.C288Y

c.863G>A

1 paper

NM_203500.2

p.C288G

c.862T>G

1 paper

NM_203500.2

p.C288R

c.862T>C

3 papers

NM_203500.2

p.C288S

c.862T>A

4 papers

NM_203500.2

p.D294Y

c.880G>T

2 papers

NM_203500.2

p.D294H

c.880G>C

2 papers

NM_203500.2

p.D294delins

c.880delinsA