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

4 papers

NM_203500.2

p.V123L

c.367G>T

Surrounding Variants

4 papers

NM_203500.2

p.V123L

c.367G>C

1 paper

NM_203500.2

p.V123M

c.367G>A

1 paper

NM_203500.2

p.V122_V123delFs

c.366_367delCC

16 papers

NM_203500.2

p.V122L

c.364G>C

1 paper

NM_203500.2

p.V122M

c.364G>A

2 papers

NM_203500.2

p.E121*

c.361G>T

4 papers

NM_203500.2

p.E121K

c.361G>A

2 papers

NM_203500.2

p.I125F

c.373A>T

2 papers

NM_203500.2

p.I125S

c.374T>G

2 papers

NM_203500.2

p.M120I

c.360G>T

2 papers

NM_203500.2

p.M120I

c.360G>C

2 papers

NM_203500.2

p.M120I

c.360G>A