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.S21_Q22insFs

c.63_64insG

Surrounding Variants

1 paper

NM_203500.2

p.Q22K

c.64C>A

1 paper

NM_203500.2

p.S21fs

c.61_62fs

3 papers

NM_203500.2

p.Q20R

c.59A>G

1 paper

NM_203500.2

p.L19del1

c.55_56delCAG

8 papers

NM_203500.2

p.C23Y

c.68G>A

1 paper

NM_203500.2

p.Q20K

c.58C>A

1 paper

NM_203500.2

p.P24S

c.70C>T

1 paper

NM_203500.2

p.P24fs

c.70_71fs

2 papers

NM_203500.2

p.E25K

c.73G>A

1 paper

NM_203500.2

p.E25G

c.74A>G

1 paper

NM_203500.2

p.F16S

c.47T>C

1 paper

NM_203500.2

p.A27S

c.79G>T