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.N183Y

c.547A>T

Surrounding Variants

1 paper

NM_203500.2

p.N183S

c.548A>G

1 paper

NM_203500.2

p.A184T

c.550G>A

1 paper

NM_203500.2

p.P181_S182insFs

c.543_544insC

1 paper

NM_203500.2

p.A184G

c.551C>G

1 paper

NM_203500.2

p.P181L

c.542C>T

1 paper

NM_203500.2

p.I185F

c.553A>T

1 paper

NM_203500.2

p.D180G

c.539A>G

6 papers

NM_203500.2

p.G186C

c.556G>T

5 papers

NM_203500.2

p.G186R

c.556G>C

4 papers

NM_203500.2

p.G186S

c.556G>A

3 papers

NM_203500.2

p.D180N

c.538G>A

1 paper

NM_203500.2

p.L179delFs

c.536delA