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.A321fs

c.961_962fs

Surrounding Variants

2 papers

NM_203500.2

p.A321V

c.962C>T

14 papers

NM_203500.2

p.R320L

c.959G>T

1 paper

NM_203500.2

p.A321fs

c.961_962fs

2 papers

NM_203500.2

p.R320P

c.959G>C

1 paper

NM_203500.2

p.A321A

c.963G>C

19 papers

NM_203500.2

p.R320Q

c.959G>A

16 papers

NM_203500.2

p.R320W

c.958C>T

2 papers

NM_203500.2

p.R320G

c.958C>G

3 papers

NM_203500.2

p.P322L

c.965C>T

1 paper

NM_203500.2

p.C319*

c.957C>A

1 paper

NM_203500.2

p.C319S

c.956G>C

3 papers

NM_203500.2

p.P322fs

c.964_965fs