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.H96Q

c.288C>G

Surrounding Variants

3 papers

NM_203500.2

p.H96Q

c.288C>A

1 paper

NM_203500.2

p.H96L

c.287A>T

1 paper

NM_203500.2

p.H96N

c.286C>A

1 paper

NM_203500.2

p.H96fs

c.286_287fs

2 papers

NM_203500.2

p.K97R

c.290A>G

2 papers

NM_203500.2

p.K97N

c.291G>T

2 papers

NM_203500.2

p.K97N

c.291G>C

1 paper

NM_203500.2

p.V98L

c.292G>C

1 paper

NM_203500.2

p.V98M

c.292G>A

1 paper

NM_203500.2

p.V98A

c.293T>C

3 papers

NM_203500.2

p.A95T

c.283G>A

4 papers

NM_203500.2

p.V99L

c.295G>T