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.C273R

c.817T>C

Surrounding Variants

2 papers

NM_203500.2

p.C273S

c.817T>A

2 papers

NM_203500.2

p.C273S

c.818G>C

1 paper

NM_203500.2

p.C273Y

c.818G>A

1 paper

NM_203500.2

p.R272R

c.816C>T

8 papers

NM_203500.2

p.R272L

c.815G>T

2 papers

NM_203500.2

p.R272P

c.815G>C

1 paper

NM_203500.2

p.R272H

c.815G>A

2 papers

NM_203500.2

p.C273W

c.819C>G

14 papers

NM_203500.2

p.R272C

c.814C>T

1 paper

NM_203500.2

p.H274L

c.821A>T

4 papers

NM_203500.2

p.H274R

c.821A>G

1 paper

NM_203500.2

p.V271E

c.812T>A