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.M110I

c.330G>C

Surrounding Variants

3 papers

NM_203500.2

p.M110I

c.330G>T

3 papers

NM_203500.2

p.M110I

c.330G>A

5 papers

NM_203500.2

p.M110V

c.328A>G

1 paper

NM_203500.2

p.F111L

c.333C>G

1 paper

NM_203500.2

p.F111L

c.333C>A

1 paper

NM_203500.2

p.A109V

c.326C>T

1 paper

NM_203500.2

p.A109insFs

c.325dupG

1 paper

NM_203500.2

p.A109P

c.325G>C

1 paper

NM_203500.2

p.A109T

c.325G>A

1 paper

NM_203500.2

p.K108R

c.323A>G

1 paper

NM_203500.2

p.N113N

c.339C>T

3 papers

NM_203500.2

p.F107L

c.321C>G