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

3 papers

NM_203500.2

p.Y300C

c.899A>G

Surrounding Variants

1 paper

NM_203500.2

p.V302V

c.906C>T

1 paper

NM_203500.2

p.C297W

c.891C>G

2 papers

NM_203500.2

p.C297F

c.890G>T

2 papers

NM_203500.2

p.C297Y

c.890G>A

1 paper

NM_203500.2

p.I304N

c.911T>A

1 paper

NM_203500.2

p.R296H

c.887G>A

1 paper

NM_203500.2

p.R296C

c.886C>T

1 paper

NM_203500.2

p.I304M

c.912C>G

1 paper

NM_203500.2

p.F305L

c.913T>C

1 paper

NM_203500.2

p.F305L

c.915C>G

1 paper

NM_203500.2

p.F305L

c.915C>A

2 papers

NM_203500.2

p.E306K

c.916G>A