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

5 papers

NM_203500.2

p.F246L

c.738C>G

Surrounding Variants

5 papers

NM_203500.2

p.F246L

c.738C>A

5 papers

NM_203500.2

p.F246L

c.736T>C

1 paper

NM_203500.2

p.A248P

c.742G>C

3 papers

NM_203500.2

p.A248T

c.742G>A

1 paper

NM_203500.2

p.A248G

c.743C>G

1 paper

NM_203500.2

p.E244D

c.732G>T

1 paper

NM_203500.2

p.E244D

c.732G>C

1 paper

NM_203500.2

p.E244Q

c.730G>C

7 papers

NM_203500.2

p.E244K

c.730G>A

1 paper

NM_203500.2

p.C249Y

c.746G>A

6 papers

NM_203500.2

p.S243C

c.728C>G

2 papers

NM_203500.2

p.E242G

c.725A>G