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.R240C

c.718C>T

Surrounding Variants

1 paper

NM_203500.2

p.R240P

c.719G>C

5 papers

NM_203500.2

p.R240H

c.719G>A

1 paper

NM_203500.2

p.V239L

c.715G>T

1 paper

NM_203500.2

p.V239L

c.715G>C

7 papers

NM_203500.2

p.V239M

c.715G>A

1 paper

NM_203500.2

p.N238K

c.714C>G

1 paper

NM_203500.2

p.N238K

c.714C>A

1 paper

NM_203500.2

p.E242*

c.724G>T

1 paper

NM_203500.2

p.E242Q

c.724G>C

2 papers

NM_203500.2

p.E242K

c.724G>A

1 paper

NM_203500.2

p.N238H

c.712A>C

2 papers

NM_203500.2

p.E242G

c.725A>G