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.K312E

c.934A>G

Surrounding Variants

1 paper

NM_203500.2

p.H311H

c.933C>T

1 paper

NM_203500.2

p.H311Q

c.933C>G

1 paper

NM_203500.2

p.H311Q

c.933C>A

2 papers

NM_203500.2

p.K312R

c.935A>G

1 paper

NM_203500.2

p.H311L

c.932A>T

5 papers

NM_203500.2

p.H311R

c.932A>G

1 paper

NM_203500.2

p.H311Y

c.931C>T

1 paper

NM_203500.2

p.H311N

c.931C>A

2 papers

NM_203500.2

p.L310P

c.929T>C

1 paper

NM_203500.2

p.T314fs

c.940_941fs

3 papers

NM_203500.2

p.T314M

c.941C>T

1 paper

NM_203500.2

p.T314K

c.941C>A