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

2 papers

NM_203500.2

p.E117Q

c.349G>C

Surrounding Variants

6 papers

NM_203500.2

p.E117K

c.349G>A

1 paper

NM_203500.2

p.E117D

c.351G>T

1 paper

NM_203500.2

p.R116L

c.347G>T

3 papers

NM_203500.2

p.R116P

c.347G>C

1 paper

NM_203500.2

p.E117D

c.351G>C

1 paper

NM_203500.2

p.E117E

c.351G>A

1 paper

NM_203500.2

p.R116Q

c.347G>A

3 papers

NM_203500.2

p.R116W

c.346C>T

1 paper

NM_203500.2

p.Q118*

c.352C>T

3 papers

NM_203500.2

p.L115Q

c.344T>A

1 paper

NM_203500.2

p.Q118H

c.354G>T

1 paper

NM_203500.2

p.Q118H

c.354G>C