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.L228P

c.683T>C

Surrounding Variants

1 paper

NM_203500.2

p.V229A

c.686T>C

1 paper

NM_203500.2

p.T230S

c.688A>T

2 papers

NM_203500.2

p.C226S

c.677G>C

1 paper

NM_203500.2

p.T230S

c.689C>G

1 paper

NM_203500.2

p.C226R

c.676T>C

2 papers

NM_203500.2

p.C226S

c.676T>A

3 papers

NM_203500.2

p.L231V

c.691C>G

1 paper

NM_203500.2

p.H225delFs

c.673delG

1 paper

NM_203500.2

p.H225fs

c.673_674fs

1 paper

NM_203500.2

p.S224F

c.671C>T

3 papers

NM_203500.2

p.S224Y

c.671C>A

1 paper

NM_203500.2

p.I232_S233insFs

c.696_697insT