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

1 paper

NM_203500.2

p.A90T

c.268G>A

Surrounding Variants

1 paper

NM_203500.2

p.A90D

c.269C>A

2 papers

NM_203500.2

p.P89L

c.266C>T

4 papers

NM_203500.2

p.A91T

c.271G>A

1 paper

NM_203500.2

p.Y85_A91delFs

c.253_271del19

3 papers

NM_203500.2

p.A91A

c.273C>A

3 papers

NM_203500.2

p.Q92*

c.274C>T

1 paper

NM_203500.2

p.Q92K

c.274C>A

1 paper

NM_203500.2

p.Q92fs

c.274_275fs

1 paper

NM_203500.2

p.Q92Q

c.276G>A

2 papers

NM_203500.2

p.F93L

c.277T>C

1 paper

NM_203500.2

p.Q86fs

c.256_257fs

2 papers

NM_203500.2

p.F93L

c.279C>G